LRAT

Summary

LRAT (lecithin retinol acyltransferase, HGNC:6685) is a protein-coding gene on chromosome 4q32.1, encoding Lecithin retinol acyltransferase (O95237). Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters.

The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9227 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inherited retinal dystrophy (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 303 total — 22 pathogenic, 11 likely-pathogenic
• GTEx eGene: eQTL in 13 tissues, sQTL in 3 (q < 0.05)
• Phenotypes (HPO): 78
• ChEMBL bioactivity: 1 clinical-phase molecule tested; no curated mechanism-of-action drug
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.21 (unconstrained)
• MANE Select transcript: NM_004744

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6685
Approved symbol	LRAT
Name	lecithin retinol acyltransferase
Location	4q32.1
Locus type	gene with protein product
Status	Approved
Aliases	LCA14
Ensembl gene	ENSG00000121207
Ensembl biotype	protein_coding
OMIM	604863
Entrez	9227

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron

MANE Select: ENST00000336356

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 4, TSL 2: 1, TSL 3: 2, TSL 4: 1

ENST00000336356, ENST00000499392, ENST00000500890, ENST00000502474, ENST00000502525, ENST00000507827, ENST00000510733, ENST00000510919, ENST00000911747, ENST00000911748, ENST00001078531, ENST00001097259, ENST00001135650

RefSeq mRNA: 2 — MANE Select: NM_004744 NM_001301645, NM_004744

CCDS: CCDS3789

Canonical transcript exons

ENST00000336356 — 3 exons

Exon	Start	End
ENSE00001344788	154744326	154744866
ENSE00001516654	154744000	154744222
ENSE00003616748	154748984	154753120

Expression profiles

Bgee: expression breadth ubiquitous, 149 present calls, max score 86.41.

FANTOM5 (CAGE): breadth broad, TPM avg 1.9836 / max 260.0290, expressed in 419 samples.

Highest expression (Bgee): pigmented layer of retina, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, gall bladder, jejunal mucosa.

Genetic regulation across tissues (GTEx eQTL / sQTL)

LRAT is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 13 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

16 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Heart Atrial Appendage	eqtl	1.7e-27	+0.92	4:154627008:C:A
Nerve Tibial	eqtl	9.8e-18	+0.47	4:154627008:C:A
Adipose Visceral Omentum	eqtl	1.2e-13	+0.52	4:154627008:C:A
Artery Aorta	eqtl	7.8e-09	+0.74	4:154627008:C:A
Esophagus Gastroesophageal Junction	eqtl	6.1e-06	+0.54	4:154627008:C:A
Nerve Tibial	sqtl	3.3e-05	-0.35	4:154735708:A:G
Colon Sigmoid	eqtl	2.2e-04	+0.17	4:154674206:C:CA
Thyroid	eqtl	5.6e-04	+0.14	4:154902934:A:G
Brain Cortex	eqtl	9.4e-04	-0.29	4:154521094:G:A
Skin Not Sun Exposed Suprapubic	eqtl	1.8e-03	+0.18	4:154719625:G:A
Esophagus Muscularis	eqtl	4.7e-03	+0.72	4:154564590:T:C
Uterus	eqtl	9.9e-03	+0.51	4:154627008:C:A
Thyroid	sqtl	1.3e-02	-0.27	4:154735708:A:G
Colon Sigmoid	sqtl	2.4e-02	-0.59	4:154627008:C:A
Brain Cerebellum	eqtl	3.5e-02	+1.55	4:154628165:T:C
Esophagus Mucosa	eqtl	5.0e-02	-0.18	4:154748713:C:T

FANTOM5 promoters

4 alternative TSS:

Promoter ID	TPM avg	Samples expressed
50184	1.3962	270
50181	0.4414	208
50182	0.0848	43
50185	0.0611	29

Top tissues by expression

showing 100 of 280 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	86.41	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.32	gold quality
gall bladder	UBERON:0002110	78.15	gold quality
jejunal mucosa	UBERON:0000399	75.61	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	73.18	gold quality
duodenum	UBERON:0002114	72.66	gold quality
right lobe of liver	UBERON:0001114	71.63	gold quality
muscle layer of sigmoid colon	UBERON:0035805	70.13	gold quality
spinal cord	UBERON:0002240	70.10	gold quality
tibial nerve	UBERON:0001323	68.56	gold quality
left lobe of thyroid gland	UBERON:0001120	68.06	gold quality
nucleus accumbens	UBERON:0001882	67.50	gold quality
right testis	UBERON:0004534	67.23	gold quality
thyroid gland	UBERON:0002046	67.19	gold quality
hypothalamus	UBERON:0001898	66.19	gold quality
left testis	UBERON:0004533	66.09	gold quality
right lobe of thyroid gland	UBERON:0001119	65.81	gold quality
islet of Langerhans	UBERON:0000006	65.27	gold quality
testis	UBERON:0000473	65.24	gold quality
sural nerve	UBERON:0015488	64.79	silver quality
small intestine	UBERON:0002108	64.59	gold quality
caudate nucleus	UBERON:0001873	63.99	gold quality
liver	UBERON:0002107	63.54	gold quality
small intestine Peyer’s patch	UBERON:0003454	62.85	gold quality
anterior cingulate cortex	UBERON:0009835	61.49	gold quality
cingulate cortex	UBERON:0003027	61.44	gold quality
amygdala	UBERON:0001876	61.38	gold quality
pancreas	UBERON:0001264	60.01	gold quality
prostate gland	UBERON:0002367	59.95	gold quality
jejunum	UBERON:0002115	59.77	gold quality
intestine	UBERON:0000160	59.49	gold quality
right uterine tube	UBERON:0001302	59.25	gold quality
substantia nigra	UBERON:0002038	59.01	gold quality
prefrontal cortex	UBERON:0000451	58.63	gold quality
body of pancreas	UBERON:0001150	58.60	gold quality
lower esophagus	UBERON:0013473	58.24	gold quality
lower esophagus muscularis layer	UBERON:0035833	58.18	gold quality
colon	UBERON:0001155	58.15	gold quality
large intestine	UBERON:0000059	57.52	gold quality
midbrain	UBERON:0001891	57.02	gold quality
lower esophagus mucosa	UBERON:0035834	56.90	gold quality
mucosa of stomach	UBERON:0001199	56.73	gold quality
Brodmann (1909) area 9	UBERON:0013540	56.36	gold quality
forebrain	UBERON:0001890	55.92	gold quality
right frontal lobe	UBERON:0002810	55.77	gold quality
telencephalon	UBERON:0001893	55.62	gold quality
neocortex	UBERON:0001950	55.21	gold quality
omental fat pad	UBERON:0010414	55.18	gold quality
peritoneum	UBERON:0002358	55.14	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	55.01	gold quality
Ammon’s horn	UBERON:0001954	54.92	gold quality
ganglionic eminence	UBERON:0004023	54.73	gold quality
fallopian tube	UBERON:0003889	54.72	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	54.58	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	54.57	gold quality
brain	UBERON:0000955	54.39	gold quality
frontal cortex	UBERON:0001870	54.38	gold quality
adipose tissue of abdominal region	UBERON:0007808	54.38	gold quality
pancreatic ductal cell	CL:0002079	54.30	silver quality
body of stomach	UBERON:0001161	54.30	gold quality
cerebral cortex	UBERON:0000956	53.75	gold quality
fundus of stomach	UBERON:0001160	53.66	gold quality
stomach	UBERON:0000945	53.59	gold quality
metanephros cortex	UBERON:0010533	53.49	gold quality
transverse colon	UBERON:0001157	53.47	gold quality
right ovary	UBERON:0002118	53.33	gold quality
putamen	UBERON:0001874	53.12	gold quality
corpus callosum	UBERON:0002336	52.97	gold quality
rectum	UBERON:0001052	52.86	gold quality
pituitary gland	UBERON:0000007	52.61	gold quality
colonic epithelium	UBERON:0000397	52.61	silver quality
temporal lobe	UBERON:0001871	52.59	gold quality
cortex of kidney	UBERON:0001225	52.58	gold quality
oviduct epithelium	UBERON:0004804	52.55	gold quality
vermiform appendix	UBERON:0001154	52.03	gold quality
esophagus	UBERON:0001043	51.93	gold quality
left ventricle myocardium	UBERON:0006566	51.78	gold quality
smooth muscle tissue	UBERON:0001135	51.77	gold quality
embryo	UBERON:0000922	51.73	silver quality
adenohypophysis	UBERON:0002196	51.68	gold quality
adult mammalian kidney	UBERON:0000082	51.64	gold quality
left uterine tube	UBERON:0001303	51.60	gold quality
endocervix	UBERON:0000458	51.38	gold quality
metanephros	UBERON:0000081	51.23	gold quality
caecum	UBERON:0001153	50.50	gold quality
anatomical system	UBERON:0000467	50.21	gold quality
multicellular organism	UBERON:0000468	50.09	gold quality
material anatomical entity	UBERON:0000465	50.08	gold quality
kidney	UBERON:0002113	49.94	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.55	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
myocardium	UBERON:0002349	49.20	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
uterine cervix	UBERON:0000002	49.07	gold quality
cardiac atrium	UBERON:0002081	49.00	gold quality
minor salivary gland	UBERON:0001830	48.98	gold quality
ovary	UBERON:0000992	48.94	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	17.23
E-CURD-11	no	38.53
E-MTAB-6379	no	8.52
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 68 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Basal ganglia	tissue	5.4
Olfactory bulb	tissue	5.3
Amygdala	tissue	5.0
Septum	tissue	5.0
Hypothalamus	tissue	4.9
Cerebellum	tissue	4.8
Putamen	tissue	4.7
Hippocampal formation	tissue	4.7
Ventral forebrain	tissue	4.7
Prefrontal cortex	tissue	4.6
Cerebral cortex	tissue	4.6
Retrosplenial cortex	tissue	4.6
Retrosplenial and cingulate cortex	tissue	4.5
Insular cortex	tissue	4.5
Entorhinal cortex	tissue	4.2
Temporal cortex	tissue	4.1
Spinal cord	tissue	4.0
Motor cortex	tissue	3.8
Occipital cortex	tissue	3.7
Corpus callosum	tissue	3.6
Periaqueductal gray	tissue	3.3
Medulla oblongata	tissue	3.1
Somatosensory cortex	tissue	3.1
Pons	tissue	2.8
Midbrain	tissue	2.8
Thalamus	tissue	2.8
Substantia nigra	tissue	2.8
Superior colliculi	tissue	2.7
Choroid plexus	tissue	2.3
Liver	tissue	2.0
Small intestine	tissue	1.5
Thyroid gland	tissue	1.4
Duodenum	tissue	1.1
Retina	tissue	0.9
Testis	tissue	0.8
Pancreas	tissue	0.8
Skeletal muscle	tissue	0.7
Seminal vesicle	tissue	0.5
Gallbladder	tissue	0.5
Bone marrow	tissue	0.5
Breast	tissue	0.4
Skin 1	tissue	0.3
Epididymis	tissue	0.3
Hippocampus	tissue	0.3
Cervix	tissue	0.2
Pituitary gland	tissue	0.2
Stomach 1	tissue	0.2
Ovary	tissue	0.2
Adipose tissue	tissue	0.2
Parathyroid gland	tissue	0.2
Nucleus accumbens	tissue	0.2
Lung	tissue	0.2
Locus coeruleus	tissue	0.2
Prostate	tissue	0.2
Adrenal gland	tissue	0.2
Fallopian tube	tissue	0.2
Appendix	tissue	0.2
Lymph node	tissue	0.1
Vagina	tissue	0.1
Salivary gland	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 165; highest nTPM — Dorsal hippocampus (4.7), Ventral hippocampus (4.5), Ventral spinal cord (4.0), Subiculum (3.8), White matter (3.6).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA4, RARB, RARG

miRNA regulators (miRDB)

Targeting LRAT by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 213 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-128-3P	99.95	71.17	2484

Functional genomics

gnomAD constraint: pLI 0.00107, LOEUF 1.21, missense Z 0.823 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000336356 — one region, missense o/e 0.94. ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 25)

• LRAT expression is higher in renal tumors with an indolent biological behavior (PMID:14581364)
• Conserved residues Cys-161 and His-60 form the essential catalytic dyad of LRAT that represents a novel thiol protease motif, which functions in an acyltransferase reaction. (PMID:14596594)
• LRAT has a role in preventing progression of invasive bladder cancer (PMID:15161698)
• Results provide evidence that multiple LRAT mRNA transcripts, which are expressed in a tissue-specific manner, may result from differential splicing of the 5’UTR region and the use of multiple polyadenylation signals in the 3’UTR. (PMID:15474300)
• LRAT has a role in retinoid absorption and storage (PMID:16115871)
• These experiments are consistent with an expanded role for LRAT function as a protein palmitoyl transferase. (PMID:16939223)
• The phenotype of patients with mutations in LRAT is similar to that of patients with mutations in RPE65, suggesting the need to systematically screen both genes in case of typical phenotype. (PMID:17011878)
• LRAT mutations are likely a rare cause of Leber congenital amaurosis among patients from North America. (PMID:17438524)
• Lecithin: retinol acyltransferase protein is distributed in both hepatic stellate cells and endothelial cells of normal rodent and human liver. (PMID:18544127)
• transcriptional regulation is aberrant in human prostate cancer and involves GATA transcription factors in normal prostate epithelial cells (PMID:18652909)
• Data show that overexpression of human LRAT specifically in mice oral basal epithelial cells makes these cells more sensitive to carcinogen induced tumorigenesis. (PMID:19471114)
• proximal region together with basal transcription factors may be sufficient to drive Lrat expression. (PMID:19665987)
• This study showed that malignant melanoma cells are able to esterify all-trans retinol and subsequently isomerize all-trans retinyl esters (RE) into 11-cis retinol, whereas their benign counterparts-melanocytes are not able to catalyze these reactions. (PMID:21465477)
• A genetic defect was identified in LRAT as a novel cause of retinitis punctata albescens. (PMID:22559933)
• LRAT mutations cause a severe, early childhood onset, progressive retinal dystrophy. (PMID:22570351)
• Data show that acyl-modified forms of HRAS-like tumor suppressors HRASLS2 and HRASLS3 mimicking lipolytic activity of lecithin retinol acyltransferase LRAT. (PMID:22605381)
• Functional hepatic stellate cells coexpressing both LRAT and CRBP-1, that continue to maintain the ability to store vitamin A, contribute in part to the development of portal and parenchymal fibrogenesis in patients with viral hepatitis. (PMID:23890161)
• high LRAT expression in melanoma might be important in removing retinol as substrate for RA production, thereby inducing signalling pathways leading to dedifferentiation, proliferation and anti-apoptosis (PMID:24433184)
• Lecithin-retinol acyltransferase is a thermostable and highly active enzyme with a likely mode of interfacial activation. (PMID:24613493)
• lecithin retinol acyltransferase affects all-trans retinoic acid levels and has a role in retinoid sensitivity in malignant melanoma cells. (PMID:25236354)
• LRAT hypermethylation was associated with decreased mRNA levels in colorectal cancer clinical specimens. (PMID:25260806)
• These findings reveal structural adaptation that facilitates selective catalysis and mechanism responsible for diverse substrate specificity within the LRAT-like enzyme family (PMID:25383759)
• instability of LRAT(E14L) did not abrogate the production of the visual chromophore in a cell-based assay. Instead, expression of LRAT(E14L) led to a rapid increase in cellular levels of retinoic acid upon retinoid supplementation. (PMID:28758396)
• The genetic analysis performed on our proband showed a novel homozygous mutation on codon 119 of lecithin-cholesterol acyltransferase gene that causes the substitution of glycine by aspartate (PMID:28942093)
• The c.541-15T>G mutation in LRAT results in aberrant splicing and is therefore predicted to be causal for the early onset retinitis pigmentosa in this family. (PMID:29973277)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	lrata	ENSDARG00000037278
mus_musculus	Lrat	ENSMUSG00000028003
rattus_norvegicus	Lrat	ENSRNOG00000025608

Paralogs (7): PLAAT1 (ENSG00000127252), PLAAT4 (ENSG00000133321), PLAAT2 (ENSG00000133328), LRATD1 (ENSG00000162981), PLAAT5 (ENSG00000168004), LRATD2 (ENSG00000168672), PLAAT3 (ENSG00000176485)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1891259) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 17 distinct phenotype terms.

Mouse phenotype (MP)	Records
short photoreceptor outer segment	2
abnormal vitamin A level	2
abnormal retina photoreceptor morphology	1
abnormal testis morphology	1
testis hypoplasia	1
oligozoospermia	1
testicular atrophy	1
abnormal eye electrophysiology	1
retina cone cell degeneration	1
abnormal retina cone cell outer segment morphology	1
retina photoreceptor degeneration	1
retina rod cell degeneration	1
thin retina outer nuclear layer	1
dilated seminiferous tubule	1
preweaning lethality, incomplete penetrance	1
abnormal vitamin A metabolism	1
abnormal retinol level	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	Q9BGL2	87.8%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
RBM46	protein-coding	166863
RBM46-AS1	ncRNA	105377500
FGA	protein-coding	2243
FGG	protein-coding	2266
NPY2R-AS1	ncRNA	107986321
NPY2R	protein-coding	4887
FGB	protein-coding	2244

Protein

Protein identifiers

Lecithin retinol acyltransferase — O95237 (reviewed: O95237)

Alternative names: Phosphatidylcholine–retinol O-acyltransferase

All UniProt accessions (2): D6RC94, O95237

UniProt curated annotations — full annotation on UniProt →

Function. Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments. Required for the survival of cone photoreceptors and correct rod photoreceptor cell morphology.

Subcellular location. Endoplasmic reticulum membrane. Rough endoplasmic reticulum. Endosome. Multivesicular body. Cytoplasm. Perinuclear region.

Tissue specificity. Hepatic stellate cells and endothelial cells (at protein level). Found at high levels in testis and liver, followed by retinal pigment epithelium, small intestine, prostate, pancreas and colon. Low expression observed in brain. In fetal tissues, expressed in retinal pigment epithelium and liver, and barely in the brain.

Disease relevance. Leber congenital amaurosis 14 (LCA14) [MIM:613341] A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by all-trans-retinyl alpha-bromoacetate and N-boc-L-biocytinyl-11-aminoundecane chloro-methyl ketone (BACMK).

Induction. LRAT activity is up-regulated by dietary vitamin A. Under conditions of vitamin A depletion, LRAT expression in the liver is induced by retinoic acid.

Pathway. Cofactor metabolism; retinol metabolism.

Similarity. Belongs to the H-rev107 family.

RefSeq proteins (2): NP_001288574, NP_004735* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007053	LRAT_dom	Domain
IPR042288	LRAT	Family

Pfam: PF04970

Enzyme classification (BRENDA)

• EC 2.3.1.135 — phosphatidylcholine-retinol O-acyltransferase (BRENDA: 8 organisms, 95 substrates, 28 inhibitors, 38 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ALL-TRANS-RETINOL	0.0001–0.055	18
RETINOL-[CELLULAR-RETINOL-BINDING-PROTEIN]	0.0002–0.001	3
11-CIS-RETINOL-[CELLULAR RETINOL-BINDING PROTEIN	0.0023–0.0113	2
ALL-TRANS-RETINOL-[CELLULAR RETINOL-BINDING PROT	0.0003–0.0288	2
RETINOL	0.0004–0.0006	2
11-CIS-RETINOL	0.006	1
ALL-TRANS-RETINOL-[CELLULAR-RETINOL-BINDING-PROT	0.0002	1
DIPALMITOYLPHOSPHATIDYLCHOLINE	0.0014	1
RETINOL-(CELLULAR-RETINOL-BINDING PROTEIN) TYPE	0.0002	1
RETINOL-(CELLULAR-RETINOL-BINDING-PROTEIN)	0.0005	1
RETINOL-[CELLULAR-RETINOL-BINDING-PROTEINTYPE II	0.0003	1

Catalyzed reactions (Rhea)

• all-trans-retinol–[retinol-binding protein] + a 1,2-diacyl-sn-glycero-3-phosphocholine = apo–[retinol-binding protein] + an all-trans-retinyl ester + a 2-acyl-sn-glycero-3-phosphocholine (RHEA:17469)
• all-trans-retinol + 1,2-dihexadecanoyl-sn-glycero-3-phosphocholine = all-trans-retinyl hexadecanoate + 2-hexadecanoyl-sn-glycero-3-phosphocholine (RHEA:43904)
• 1,2-diheptanoyl-sn-glycero-3-phosphocholine + all-trans-retinol–[retinol-binding protein] = all-trans-retinyl heptanoate + 2-heptanoyl-sn-glycero-3-phosphocholine + apo–[retinol-binding protein] (RHEA:55320)
• 1,2-dioctanoyl-sn-glycero-3-phosphocholine + all-trans-retinol–[retinol-binding protein] = 2-octanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl octanoate + apo–[retinol-binding protein] (RHEA:56240)
• all-trans-retinol–[retinol-binding protein] + 1,2-dihexadecanoyl-sn-glycero-3-phosphocholine = apo–[retinol-binding protein] + all-trans-retinyl hexadecanoate + 2-hexadecanoyl-sn-glycero-3-phosphocholine (RHEA:56244)
• 1,2-didodecanoyl-sn-glycero-3-phosphocholine + all-trans-retinol–[retinol-binding protein] = 2-dodecanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl dodecanoate + apo–[retinol-binding protein] (RHEA:56248)

UniProt features (16 total): mutagenesis site 5, active site 3, topological domain 2, sequence variant 2, chain 1, sequence conflict 1, transmembrane region 1, domain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95237-F1	83.69	0.50

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Transferases, Metabolic proteins, Predicted membrane proteins, Predicted intracellular proteins, Disease related genes, Potential drug targets, Human disease related genes, Eye disease

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): endoplasmic reticulum; golgi apparatus; basal body; plasma membrane

Antibody reliability (HPA): IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3)

Position	Role
60
72
161	acyl-thioester intermediate

Mutagenesis-validated functional residues (5)

Position	Phenotype
161	loss of activity.
168	loss of activity.
168	does not affect activity.
182	does not affect activity.
208	does not affect activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 curated (TAS) of 12; 5 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

12 pathways:

ID	Pathway	Evidence
R-HSA-9918442	Defective visual phototransduction due to LRAT loss of function ⚕	curated
R-HSA-975634	Retinoid metabolism and transport	curated
R-HSA-2453902	The canonical retinoid cycle in rods (twilight vision)	curated
R-HSA-1643685	Disease ⚕	—
R-HSA-2474795	Diseases associated with visual transduction ⚕	—
R-HSA-9675143	Diseases of the neuronal system ⚕	—
R-HSA-2453864	Retinoid cycle disease events ⚕	—
R-HSA-1430728	Metabolism	—
R-HSA-6806667	Metabolism of fat-soluble vitamins	—
R-HSA-196854	Metabolism of vitamins and cofactors	—
R-HSA-9709957	Sensory Perception	—
R-HSA-2187338	Visual phototransduction	—

MSigDB gene sets: 277 (showing top): BENPORATH_ES_WITH_H3K27ME3, chr4q32, GOBP_RESPONSE_TO_PEPTIDE, GCANCTGNY_MYOD_Q6, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_RETINOL_METABOLIC_PROCESS, PID_CONE_PATHWAY, GOBP_POSITIVE_REGULATION_OF_LIPID_TRANSPORT, BILD_HRAS_ONCOGENIC_SIGNATURE, FREAC3_01, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, MYOD_Q6, GOBP_RESPONSE_TO_LIPID, GOBP_RESPONSE_TO_VITAMIN_A

GO Biological Process (8): retinoid metabolic process (GO:0001523), vitamin A metabolic process (GO:0006776), visual perception (GO:0007601), lipid storage (GO:0019915), response to retinoic acid (GO:0032526), response to vitamin A (GO:0033189), retinol metabolic process (GO:0042572), lipid metabolic process (GO:0006629)

GO Molecular Function (7): retinoic acid binding (GO:0001972), O-palmitoyltransferase activity (GO:0016416), acyltransferase activity (GO:0016746), retinol binding (GO:0019841), phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (5): multivesicular body (GO:0005771), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), rough endoplasmic reticulum (GO:0005791), perinuclear region of cytoplasm (GO:0048471)

Reactome top-level categories

9 top-level categories:

Category	Pathways
Visual phototransduction	2
Metabolism of fat-soluble vitamins	1
Retinoid cycle disease events	1
Metabolism	1
Sensory Perception	1
Diseases associated with visual transduction	1
Diseases of the neuronal system	1
Metabolism of vitamins and cofactors	1
Disease	1

GO top-level categories

29 GO namespaces:

Category	Terms
retinoid metabolic process	2
response to lipid	2
retinoid binding	2
cytoplasm	2
diterpenoid metabolic process	1
sensory perception of light stimulus	1
nutrient storage	1
response to oxygen-containing compound	1
response to vitamin	1
primary alcohol metabolic process	1
hormone metabolic process	1
olefinic compound metabolic process	1
primary metabolic process	1
monocarboxylic acid binding	1
palmitoyltransferase activity	1
transferase activity	1
vitamin binding	1
alcohol binding	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
binding	1
catalytic activity	1
late endosome	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 21 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
retinol metabolic process	BP	direct assay
phosphatidylcholine-retinol O-acyltransferase activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 842 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRAT	RPE65	Q16518	974
LRAT	SPATA7	Q9P0W8	900
LRAT	AIPL1	Q9NZN9	885
LRAT	RDH12	Q96NR8	877
LRAT	TULP1	O00294	845
LRAT	GNAT1	P11488	827
LRAT	RD3	Q7Z3Z2	825
LRAT	RPGRIP1	Q96KN7	815
LRAT	IMPDH1	P20839	798
LRAT	GUCY2D	Q02846	792
LRAT	RBP1	P09455	790
LRAT	LCA5	Q86VQ0	790
LRAT	OPN4	Q9UHM6	782
LRAT	RDH5	Q92781	776
LRAT	MERTK	Q12866	776

IntAct

Human interaction partners of LRAT in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

4 partners by confidence:

Partner	Interaction type	MIscore	Records
NME2P1	physical association	0.590	2
BLCAP	physical association	0.560	3
HSD17B13	physical association	0.560	3
TMX2	physical association	0.560	3

BioGRID (9 interactions; top human partners by supporting records): NME2P1 (Affinity Capture-MS; 3 records), ASB11 (Proximity Label-MS), BLCAP (Two-hybrid), HSD17B13 (Two-hybrid), TMEM31 (Two-hybrid), TMX2 (Two-hybrid)

SIGNOR signaling

2 signaling interactions:

A	Effect	B	Mechanism
LRAT	“down-regulates quantity”	retinol	“chemical modification”
LRAT	“up-regulates quantity”	“all-trans-retinyl ester”	“chemical modification”

Disease & clinical

Genetic variants

Variant evidence for LRAT: 303 ClinVar records (33 pathogenic / likely pathogenic); 2 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

303 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	22
Likely pathogenic	11
Uncertain significance	162
Likely benign	76
Benign	2

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 33 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
143129	NM_004744.5(LRAT):c.163C>T (p.Arg55Trp)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
1073195	NM_004744.5(LRAT):c.12del (p.Met5fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
1172717	NM_004744.5(LRAT):c.504C>A (p.Cys168Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
1180621	NM_004744.5(LRAT):c.157_159dup (p.Val53dup)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
3336592	NM_004744.5(LRAT):c.470T>C (p.Leu157Pro)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
5334	NM_004744.5(LRAT):c.525T>A (p.Ser175Arg)	Pathogenic	criteria provided, single submitter	3
236451	NM_004744.5(LRAT):c.473G>A (p.Trp158Ter)	Pathogenic	criteria provided, single submitter	2
978449	NM_004744.5(LRAT):c.554_555del (p.Val185fs)	Pathogenic	criteria provided, single submitter	2
978974	NM_004744.5(LRAT):c.241_242del (p.Leu81fs)	Pathogenic	criteria provided, single submitter	2
95178	NM_004744.5(LRAT):c.588dup (p.Ala197fs)	Pathogenic	criteria provided, single submitter	1
1359044	NM_004744.5(LRAT):c.312del (p.Val105fs)	Pathogenic	criteria provided, single submitter	1
2746775	NM_004744.5(LRAT):c.462C>A (p.Tyr154Ter)	Pathogenic	criteria provided, single submitter	1
2829724	NM_004744.5(LRAT):c.198del (p.Asp67fs)	Pathogenic	criteria provided, single submitter	1
2858521	NM_004744.5(LRAT):c.163del (p.Arg55fs)	Pathogenic	criteria provided, single submitter	1
2913774	NM_004744.5(LRAT):c.540+1G>A	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore LRAT’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 14 predictions of 215):

Position(s)	Effect	Δscore	Sites
4:154744867–154744868	donor_loss	1.0000	5
4:154744833	donor_gain	0.9900
4:154749150	donor_gain	0.9600
4:154749153	donor_gain	0.9600
4:154749160	donor_gain	0.9600
4:154748327	donor_gain	0.9400
4:154749073	donor_gain	0.9400
4:154744868	donor_loss	0.9300
4:154749167	donor_gain	0.9000
4:154749171	donor_gain	0.8900

AlphaMissense

480 missense substitutions predicted likely pathogenic (of 1,497 scored), across 123 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
H60	8	0.977	0.992
H72	8	0.966	0.988
D76	8	0.956	0.983
F116	8	0.955	0.995
D111	8	0.952	0.983
H163	8	0.952	0.981
N160	8	0.939	0.990
D49	8	0.857	0.945
F164	7	0.964	0.989
C161	7	0.945	0.987
C168	7	0.937	0.994
S175	7	0.928	0.995
E162	7	0.924	0.985
W158	7	0.869	0.938
N125	7	0.855	0.956
D191	7	0.798	0.917
W227	7	0.783	0.946
D128	7	0.769	0.836
D115	7	0.753	0.804
G48	6	0.980	0.994

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:604863 | disease phenotypes: MIM:613341, MIM:204000, MIM:268000

GenCC curated gene-disease

4 curated gene-disease records:

Disease	Classification	Inheritance	Records
Leber congenital amaurosis 14	Strong	Autosomal recessive	3
Leber congenital amaurosis	Strong	Autosomal recessive	2
severe early-childhood-onset retinal dystrophy	Supportive	Autosomal recessive
retinitis pigmentosa	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

1 validity classifications:

Disease	Classification	Inheritance
inherited retinal dystrophy	Definitive	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (3 panels, 3 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

3 panels:

Panel	Rating
DDG2P	green
Paediatric disorders	green
Retinal disorders	green

Mondo (6): inherited retinal dystrophy (MONDO:0019118), Leber congenital amaurosis 14 (MONDO:0013231), Leber congenital amaurosis (MONDO:0018998), retinitis pigmentosa (MONDO:0019200), Leber congenital amaurosis 1 (MONDO:0008764), severe early-childhood-onset retinal dystrophy (MONDO:0009549)

Orphanet (3): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Leber congenital amaurosis (Orphanet:65), Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

showing 60 of 78 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000365	Hearing impairment
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000533	Chorioretinal atrophy
HP:0000540	Hypermetropia
HP:0000541	Retinal detachment
HP:0000543	Optic disc pallor
HP:0000545	Myopia
HP:0000546	Retinal degeneration
HP:0000550	Undetectable electroretinogram
HP:0000551	Color vision defect
HP:0000556	Retinal dystrophy
HP:0000563	Keratoconus
HP:0000577	Exotropia
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000622	Blurred vision
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
HP:0000662	Nyctalopia
HP:0000729	Autistic behavior
HP:0000842	Hyperinsulinemia
HP:0000980	Pallor
HP:0001103	Abnormal macular morphology
HP:0001105	Retinal atrophy
HP:0001116	Macular pseudocoloboma
HP:0001133	Constriction of peripheral visual field
HP:0001141	Severely reduced visual acuity
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001419	X-linked recessive inheritance
HP:0001483	Eye poking
HP:0002084	Encephalocele
HP:0002172	Postural instability
HP:0002269	Abnormality of neuronal migration
HP:0002317	Unsteady gait
HP:0002527	Falls
HP:0004374	Hemiplegia/hemiparesis
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007695	Abnormal pupillary light reflex
HP:0007703	Abnormal retinal pigmentation
HP:0007722	Retinal pigment epithelial atrophy
HP:0007737	Spicular pigmentation of the retina
HP:0007787	Posterior subcapsular cataract
HP:0007793	Granular macular appearance
HP:0007814	Retinal pigment epithelial mottling

GWAS associations

2 associations:

Study	Trait	p-value
GCST006018_1	Activated partial thromboplastin time	4e-16
GCST010396_204	Gut microbiota (bacterial taxa, hurdle binary method)	4e-6

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0007874	gut microbiome measurement

MeSH disease descriptors

4 disease descriptors:

Descriptor	Name	Tree numbers
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C567636	Leber Congenital Amaurosis 14 *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2202 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 219,099 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

1 molecules by phase:

Molecule	Name	Phase	Patents
CHEMBL184618	FRAMYCETIN	3	219,099

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

2 measured of 2 human assays (3 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
(2R,3S,4R,5R,6R)-5-amino-2-(aminomethyl)-6-{[(1R,2R,3S,4R,6S)-4,6-diamino-2,3-dihydroxycyclohexyl]oxy}oxane-3,4-diol	IC50	102000 nM
5-Amino-2-aminomethyl-6-(3,5-diamino-2,6-dihydroxy-cyclohexyloxy)-tetrahydro-pyran-3,4-diol	IC50	152000 nM

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	4
Resveratrol	decreases expression, affects cotreatment	2
Ethanol	increases expression, affects cotreatment	2
Benzo(a)pyrene	increases expression, increases methylation	2
Tretinoin	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
ferrous chloride	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
MT19c compound	increases expression	1
Sunitinib	increases expression	1
Vehicle Emissions	decreases methylation	1
Clorgyline	increases expression	1
Copper	affects cotreatment, decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Folic Acid	affects cotreatment, increases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	decreases expression	1
Vitamin A	affects cotreatment, increases uptake	1
Isotretinoin	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Particulate Matter	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL707894	Binding	Compound tested in vitro for inhibition of translation using highly active Escherichia coli S30 and a plasmid containing a gene expressing truncated lecithin retinol acyltransferase	Synthesis of (+),(-)-neamine and their positional isomers as potential antibiotics. — *Bioorg Med Chem Lett*

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 268 trials:

NCT	Phase	Status	Title
NCT00717080	Phase 4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT05244304	Phase 3	COMPLETED	Phase 3, Randomized, Placebo-Controlled Study of Tinlarebant to Explore Safety and Efficacy in Adolescent Stargardt Disease
NCT00999609	Phase 3	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
NCT06891443	Phase 3	RECRUITING	Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
NCT00000114	Phase 3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	Phase 3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	Phase 3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	Phase 3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	Phase 3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	Phase 3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	Phase 3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	Phase 3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	Phase 3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	Phase 3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	Phase 3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	Phase 3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT07710196	Phase 3	NOT_YET_RECRUITING	A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT04489511	Phase 2	COMPLETED	Study of STG-001 in Subjects With Stargardt Disease
NCT00100230	Phase 2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	Phase 2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	Phase 2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	Phase 2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	Phase 2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	Phase 2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	Phase 2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	Phase 2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	Phase 2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	Phase 2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	Phase 2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	Phase 2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	Phase 2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	Phase 2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	Phase 2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	Phase 2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	Phase 2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772	Phase 2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964	Phase 2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	Phase 2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	Phase 2	ACTIVE_NOT_RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	Phase 2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	Phase 2	ACTIVE_NOT_RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT07796646	Phase 2	NOT_YET_RECRUITING	Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT03772938	Phase 1	UNKNOWN	Stem Cells Therapy in Degenerative Diseases of the Retina
NCT00516477	Phase 1	COMPLETED	Safety Study in Subjects With Leber Congenital Amaurosis
NCT00821340	Phase 1	COMPLETED	Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations
NCT00063765	Phase 1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455	Phase 1	COMPLETED	Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
NCT00458575	Phase 1	TERMINATED	A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa
NCT01068561	Phase 1	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT01482195	Phase 1	COMPLETED	Trial of Subretinal Injection of (rAAV2-VMD2-hMERTK)
NCT01531348	Phase 1	COMPLETED	Intravitreal Injection of MSCs in Retinitis Pigmentosa
NCT01543906	Phase 1	COMPLETED	Oral QLT091001 in Retinitis Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65)
NCT01604356	Phase 1	COMPLETED	Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa
NCT01736059	Phase 1	ACTIVE_NOT_RECRUITING	Clinical Trial of Autologous Intravitreal Bone-marrow CD34+ Stem Cells for Retinopathy
NCT02280135	Phase 1	COMPLETED	Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa
NCT03063021	Phase 1	COMPLETED	The FIGHT-RP1 Study
NCT03944239	Phase 1	ACTIVE_NOT_RECRUITING	Safety and Efficacy of Subretinal Transplantation of Clinical Human Embryonic Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Retinitis Pigmentosa
NCT03999021	Phase 1	ACTIVE_NOT_RECRUITING	FIGHT-RP 1 Extension Study
NCT04284293	Phase 1	ACTIVE_NOT_RECRUITING	CNS10-NPC for the Treatment of RP
NCT04925687	Phase 1	COMPLETED	Phase 1 Study of Intravitreal Autologous CD34+ Stem Cell Therapy for Retinitis Pigmentosa

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for LRAT across ~30M SureChEMBL compounds — explore on Sugi Predict.