POMGNT1

Summary

POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), HGNC:19139) is a protein-coding gene on chromosome 1p34.1, encoding Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (Q8WZA1). Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins.

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described.

Source: NCBI Gene 55624 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myopathy caused by variation in POMGNT1 (Definitive, ClinGen) — +8 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 1,090 total — 62 pathogenic, 110 likely-pathogenic
• Phenotypes (HPO): 165
• Druggable target: yes
• MANE Select transcript: NM_017739

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19139
Approved symbol	POMGNT1
Name	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20277, MGAT1.2, LGMD2O
Ensembl gene	ENSG00000085998
Ensembl biotype	protein_coding
OMIM	606822
Entrez	55624

Gene structure

Transcript identifiers

Ensembl transcripts: 73 — 32 protein_coding, 25 retained_intron, 10 nonsense_mediated_decay, 6 protein_coding_CDS_not_defined

ENST00000371984, ENST00000371992, ENST00000396420, ENST00000463030, ENST00000475642, ENST00000477114, ENST00000480972, ENST00000485714, ENST00000489985, ENST00000497439, ENST00000684817, ENST00000684898, ENST00000685230, ENST00000685275, ENST00000685444, ENST00000685704, ENST00000685775, ENST00000685833, ENST00000686252, ENST00000686379, ENST00000686724, ENST00000686737, ENST00000687112, ENST00000687149, ENST00000687197, ENST00000687235, ENST00000687613, ENST00000687683, ENST00000688032, ENST00000688596, ENST00000688608, ENST00000688919, ENST00000689031, ENST00000689717, ENST00000689756, ENST00000690377, ENST00000690678, ENST00000691185, ENST00000691209, ENST00000691243, ENST00000692169, ENST00000692202, ENST00000692322, ENST00000692369, ENST00000692599, ENST00000692635, ENST00000693168, ENST00000693218, ENST00000693223, ENST00000693365, ENST00000908469, ENST00000908470, ENST00000908471, ENST00000908472, ENST00000908473, ENST00000908474, ENST00000908475, ENST00000908476, ENST00000908477, ENST00000908478, ENST00000908479, ENST00000908480, ENST00000908481, ENST00000939423, ENST00000939424, ENST00000939425, ENST00000948736, ENST00000948737, ENST00000948738, ENST00000948739, ENST00000948740, ENST00000948741, ENST00000948742

RefSeq mRNA: 5 — MANE Select: NM_017739 NM_001243766, NM_001290129, NM_001290130, NM_001410783, NM_017739

CCDS: CCDS531, CCDS57995, CCDS90941

Canonical transcript exons

ENST00000371984 — 22 exons

Exon	Start	End
ENSE00001350519	46198336	46198434
ENSE00001456610	46188683	46189357
ENSE00001614556	46193855	46193925
ENSE00001619510	46193305	46193388
ENSE00001761151	46193564	46193639
ENSE00003472500	46192308	46192436
ENSE00003480022	46190720	46190784
ENSE00003503635	46193174	46193215
ENSE00003539723	46194844	46194961
ENSE00003552043	46192098	46192223
ENSE00003580510	46196731	46196849
ENSE00003591450	46194553	46194651
ENSE00003613670	46192518	46192590
ENSE00003618102	46189458	46189567
ENSE00003626285	46196012	46196077
ENSE00003627675	46190473	46190517
ENSE00003631805	46197702	46197871
ENSE00003642763	46195811	46195924
ENSE00003663617	46196970	46197084
ENSE00003667939	46192900	46192958
ENSE00003686684	46194274	46194401
ENSE00003688407	46189854	46189989

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 97.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5846 / max 87.0869, expressed in 1777 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12170	16.0993	1776
12169	0.4853	273

Top tissues by expression

286 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	97.71	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.95	gold quality
adenohypophysis	UBERON:0002196	96.81	gold quality
heart left ventricle	UBERON:0002084	96.19	gold quality
right lobe of thyroid gland	UBERON:0001119	96.18	gold quality
spinal cord	UBERON:0002240	96.15	gold quality
left lobe of thyroid gland	UBERON:0001120	96.00	gold quality
cardiac ventricle	UBERON:0002082	95.95	gold quality
thyroid gland	UBERON:0002046	95.22	gold quality
right frontal lobe	UBERON:0002810	95.22	gold quality
pituitary gland	UBERON:0000007	95.17	gold quality
metanephros cortex	UBERON:0010533	95.03	gold quality
gastrocnemius	UBERON:0001388	94.92	gold quality
right atrium auricular region	UBERON:0006631	94.83	gold quality
nucleus accumbens	UBERON:0001882	94.56	gold quality
prefrontal cortex	UBERON:0000451	94.49	gold quality
left adrenal gland cortex	UBERON:0035825	94.45	gold quality
right adrenal gland	UBERON:0001233	94.25	gold quality
left adrenal gland	UBERON:0001234	94.24	gold quality
heart	UBERON:0000948	94.23	gold quality
right testis	UBERON:0004534	94.15	gold quality
muscle of leg	UBERON:0001383	94.12	gold quality
left testis	UBERON:0004533	94.04	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.02	gold quality
tibial nerve	UBERON:0001323	94.01	gold quality
right adrenal gland cortex	UBERON:0035827	94.00	gold quality
anterior cingulate cortex	UBERON:0009835	93.99	gold quality
cingulate cortex	UBERON:0003027	93.96	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.95	gold quality
caudate nucleus	UBERON:0001873	93.88	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	16.80
E-ANND-3	yes	6.84
E-CURD-46	yes	6.39
E-GEOD-137537	yes	5.68
E-HCAD-10	yes	4.03
E-CURD-135	no	1613.60

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ZNF202

miRNA regulators (miRDB)

84 targeting POMGNT1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-199A-5P	99.51	69.71	1107

Literature-anchored findings (GeneRIF, showing 28)

• Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the MEB locus, in three Tunisian patients (PMID:12467726)
• Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. 13 mutations have been identified in patients with MEB. The mutant POMGnT1s were expressed and none had any activity. (PMID:12788071)
• Results describe the identification of a novel O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene missense mutation in muscle-eye-brain disease. (PMID:15236414)
• DNA mutational analysis and phenotypes in patients with muscle-eye-brain disease (PMID:15466003)
• Our results suggest that PomGnT1, enzymes involved in the O-mannosyl glycosylation pathway, play an active role in modulating integrin and laminin-dependent adhesion and migration of human neuronal cells. (PMID:16857188)
• In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations. (PMID:17869517)
• report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene; a 6-year-old sibling has a severe form of muscle-eye-brain (MEB) disease; the same mutation resulted in a less severe form of MEB in the older sibling (PMID:17881266)
• data suggest mutational hotspots within the minimal catalytic domain at arginine residue 442 (exon 16) and in intron 17 (PMID:17906881)
• the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis (PMID:20816175)
• This study gives a comprehensive biochemical evaluation of all clinically relevant POMGnT1 point mutations known to date, which have been linked to muscle-eye-brain disease or similar conditions. (PMID:21361872)
• these results show that the amino acid sequence affects POMGnT1 activity. (PMID:21684258)
• This study demonistreated that Intragenic rearrangements in POMGNT1 gene in muscle-eye-brain disease. (PMID:21727005)
• Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. (PMID:22419172)
• POMGnT1 point mutations and protein expression are associated with variably severe muscle-eye-brain disease showing that severity of the phenotype does not correlate with protein expression. (PMID:22554691)
• Identification of novel POMGnT1 mutations in Chinese patients with muscle-eye-brain disease. (PMID:23689641)
• study presents clinical, neuroradiological, and POMGNT1 findings in 12 muscle-eye-brain disease patients of Turkish origin from 10 families; suggests a genotype-phenotype correlation (PMID:24731844)
• Data indicate that Golgi phosphoprotein 3 (GOLPH3) binds to and controls the Golgi localization of protein O-linked mannose beta-1,2-N-acetlyglucosaminyltransferase 1 (POMGnT1). (PMID:24733390)
• POMGNT1 Is Glycosylated by Mucin-Type O-Glycans (PMID:26328495)
• When association tests were applied to data from the Diabetes Heart Study, it found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes. (PMID:26783077)
• Study identified recessive POMGNT1 mutations in three unrelated non-syndromic retinitis pigmentosa families showing significant impaired POMGNT1 enzymatic activity. (PMID:26908613)
• The authors have identified a novel mutation in POMGNT1 that causes nonsyndromic autosomal recessive retinitis pigmentosa, adding to the genetic heterogeneity of this retinal disease. (PMID:27391550)
• Next-generation sequencing data analysis revealed that all three muscle-eye-brain disease patients had the same novel copy number variations (CNV) g.6668-8257del, which was homozygous in patient 1 and heterozygous in patients 2 and 3. (PMID:28765568)
• These findings demonstrate that PomGnT1 might be a new focus of glioblastoma (GBM)research for treatment of recurrent Temozolomide -resistant GBM (PMID:29048655)
• Genetic testing revealed two known heterozygous mutations in the POMGnT1 gene confirming muscular dystrophy-dystroglycanopathy type A (MDDGA3), one of a group of diseases collectively known as congenital muscular dystrophies, is an alpha-dystroglycanopathy with characteristic brain and ocular abnormalities. (PMID:29555514)
• FAM3B/PANDER-Like Carbohydrate-Binding Domain in a Glycosyltransferase, POMGNT1. (PMID:32306360)
• Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy. (PMID:33175337)
• Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion. (PMID:33610554)
• Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus. (PMID:35843586)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pomgnt1	ENSDARG00000052025
mus_musculus	Pomgnt1	ENSMUSG00000028700
rattus_norvegicus	Pomgnt1	ENSRNOG00000023455
caenorhabditis_elegans		WBGENE00001637
caenorhabditis_elegans		WBGENE00001638
caenorhabditis_elegans		WBGENE00001639

Paralogs (1): MGAT1 (ENSG00000131446)

Protein

Protein identifiers

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 — Q8WZA1 (reviewed: Q8WZA1)

Alternative names: UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2

All UniProt accessions (11): Q8WZA1, A0A8I5KNB7, A0A8I5KPT5, A0A8I5KQE4, A0A8I5KR25, A0A8I5KSR6, A0A8I5KTS5, A0A8I5KVA5, A0A8I5QJA9, A0A8I5QJV3, Q68CV6

UniProt curated annotations — full annotation on UniProt →

Function. Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins. Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.

Subunit / interactions. Interacts with DAG1 (via O-linked mannose moiety). Interacts (via transmembrane domain) with FKTN; the interaction is direct and is required for normal location in Golgi membranes.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.

Disease relevance. Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280] An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, intellectual disability, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. The disease is caused by variants affecting the gene represented in this entry. Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3 (MDDGB3) [MIM:613151] An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. Clinical features include intellectual disability, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase. The disease is caused by variants affecting the gene represented in this entry. Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3) [MIM:613157] A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan. The disease is caused by variants affecting the gene represented in this entry. Retinitis pigmentosa 76 (RP76) [MIM:617123] A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP76 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. The manganese ion interacts primarily with the substrate UDP-N-acetylglucosamine.

Domain organisation. Amino acid residues between 299-311 are important for both protein expression and enzymatic activity. The minimal catalytic domain is located between positions 299-651. Single amino acid substitutions in the stem domain from MEB patients abolished the activity of the membrane-bound form but not the soluble form. This suggests that the stem domain of the soluble form is unnecessary for activity, but that some amino acids play a crucial role in the membrane-bound form. The GG-type lectin domain is known as the stem domain in POMGnT1. It mediates specific interaction with beta-linked N-acetylglucosamine moieties of O-glycosylated proteins. It also interacts with its product, N-acetyl-beta-D-glucosaminyl-(1->2)-O-alpha-D-mannosylprotein.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 13 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WZA1-1	1	yes
Q8WZA1-2	2

RefSeq proteins (5): NP_001230695, NP_001277058, NP_001277059, NP_001397712, NP_060209* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004139	Glyco_trans_13	Family
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR039474	POMGNT1_PANDER-like	Domain
IPR039477	ILEI/PANDER_dom	Domain
IPR052463	O-linked_mannose_GnT	Family

Pfam: PF03071, PF15711

Enzyme classification (BRENDA):

• EC 2.4.1.312 — protein O-mannose beta-1,4-N-acetylglucosaminyltransferase (BRENDA: 1 organisms, 10 substrates, 0 inhibitors, 6 Km, 6 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
3-O-(ALPHA-D-MANNOSYL)-L-THREONYL-[PKRVRRQIHA-T-	1.2–2.2	2
3-O-(ALPHA-D-MANNOSYL)-L-THREONYL-[TIRTRGAIIQ-T-	0.8–2.6	2
3-O-(ALPHA-D-MANNOSYL)-L-THREONYL-[IQEPPSRIVP-T-	0.1	1
3-O-(ALPHA-D-MANNOSYL)-L-THREONYL-[YVEP-T-AV]	11	1

Catalyzed reactions (Rhea), 1 shown:

• 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl-(1->2)-alpha-D-mannosyl)-L-threonyl-[protein] + UDP + H(+) (RHEA:54128)

UniProt features (114 total): strand 27, sequence variant 22, helix 21, binding site 10, mutagenesis site 10, region of interest 6, turn 4, disulfide bond 4, topological domain 2, sequence conflict 2, chain 1, compositionally biased region 1, transmembrane region 1, modified residue 1, splice variant 1, domain 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
5GGN	X-RAY DIFFRACTION	1.21
5GGL	X-RAY DIFFRACTION	1.27
5GGK	X-RAY DIFFRACTION	1.3
5XFC	X-RAY DIFFRACTION	1.4
5GGJ	X-RAY DIFFRACTION	1.42
5GGO	X-RAY DIFFRACTION	1.5
5GGP	X-RAY DIFFRACTION	1.6
5GGF	X-RAY DIFFRACTION	2.49
5GGI	X-RAY DIFFRACTION	2.6
5GGG	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WZA1-F1	89.77	0.80

Functional residue map

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

Ligand- & substrate-binding residues (10): 129; 179; 207; 307–311; 338; 371; 394–395; 395; 500; 506–507

Post-translational modifications (1): 7

Disulfide bonds (4): 254–281, 269–279, 421–490, 562–596

Mutagenesis-validated functional residues (10):

Position	Phenotype
1–65	gives rise to a soluble form.
129	decreased protein stability. decreased enzyme activity.
179	moderately increased enzyme activity. decreased affinity for n-acetylglucosamine.
207	decreased enzyme activity. impairs protein stability.
473	abolishes in vitro enzyme activity; when associated with a-477.
474	nearly abolishes enzyme activity.
477	abolishes in vitro enzyme activity; when associated with a-473.
481	decreased enzyme activity.
507	abolishes enzyme activity.
600	abolishes enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5083628	Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
R-HSA-8932504	DAG1 core M2 glycosylations
R-HSA-8932506	DAG1 core M1 glycosylations
R-HSA-9939291	Matriglycan biosynthesis on DAG1

MSigDB gene sets: 391 (showing top): GOBP_DENTATE_GYRUS_DEVELOPMENT, GOBP_INFLAMMATORY_RESPONSE, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_HIPPOCAMPUS_DEVELOPMENT, GOBP_ENSHEATHMENT_OF_NEURONS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, chr1p34, GOBP_PALLIUM_DEVELOPMENT, GOBP_HEAD_DEVELOPMENT, DODD_NASOPHARYNGEAL_CARCINOMA_UP, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_SENSORY_PERCEPTION, SENESE_HDAC1_TARGETS_UP

GO Biological Process (12): protein O-linked glycosylation (GO:0006493), sensory perception of sound (GO:0007605), gene expression (GO:0010467), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), dentate gyrus development (GO:0021542), protein O-linked glycosylation via mannose (GO:0035269), myelination (GO:0042552), localization of cell (GO:0051674), basement membrane organization (GO:0071711), reactive gliosis (GO:0150103), obsolete protein glycosylation (GO:0006486), brain development (GO:0007420)

GO Molecular Function (8): acetylglucosaminyltransferase activity (GO:0008375), manganese ion binding (GO:0030145), carbohydrate binding (GO:0030246), beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), metal ion binding (GO:0046872)

GO Cellular Component (3): Golgi membrane (GO:0000139), membrane (GO:0016020), Golgi apparatus (GO:0005794)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
DAG1 glycosylations	3
Diseases associated with O-glycosylation of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein O-linked glycosylation	2
binding	2
glycoprotein biosynthetic process	1
sensory perception of mechanical stimulus	1
macromolecule biosynthetic process	1
hippocampus development	1
anatomical structure development	1
axon ensheathment	1
cellular process	1
localization	1
extracellular matrix organization	1
neuroinflammatory response	1
central nervous system development	1
animal organ development	1
head development	1
UDP-glycosyltransferase activity	1
hexosyltransferase activity	1
transition metal ion binding	1
acetylglucosaminyltransferase activity	1
catalytic activity, acting on a glycoprotein	1
catalytic activity	1
transferase activity	1
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POMGNT1	FKTN	O75072	990
POMGNT1	POMT2	Q9UKY4	987
POMGNT1	FKRP	Q9H9S5	986
POMGNT1	POMT1	Q9Y6A1	986
POMGNT1	DAG1	Q14118	972
POMGNT1	LARGE1	O95461	914
POMGNT1	POMGNT2	Q8NAT1	864
POMGNT1	MGAT5B	Q3V5L5	838
POMGNT1	B3GALNT2	Q8NCR0	835
POMGNT1	POMK	Q9H5K3	831
POMGNT1	RXYLT1	Q9Y2B1	814
POMGNT1	GMPPB	Q9Y5P6	782
POMGNT1	ADGRL2	O95490	773
POMGNT1	DPM3	Q9P2X0	770
POMGNT1	SGCB	Q16585	754

IntAct

155 interactions, top by confidence:

A	B	Type	Score
POMGNT1	RXYLT1	psi-mi:“MI:0915”(physical association)	0.740
RXYLT1	FKTN	psi-mi:“MI:0914”(association)	0.710
POMGNT1	LNX1	psi-mi:“MI:0915”(physical association)	0.670
RANBP6	SLC27A2	psi-mi:“MI:0914”(association)	0.640
SLC1A1	AGPAT2	psi-mi:“MI:0914”(association)	0.640
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
POMGNT1	CISD2	psi-mi:“MI:0915”(physical association)	0.560
CD74	POMGNT1	psi-mi:“MI:0915”(physical association)	0.560
POMGNT1	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
CXorf66	POMGNT1	psi-mi:“MI:0915”(physical association)	0.560
POMGNT1	TMEM237	psi-mi:“MI:0915”(physical association)	0.560
CISD2	POMGNT1	psi-mi:“MI:0915”(physical association)	0.560
MME	TMEM223	psi-mi:“MI:0914”(association)	0.530
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
MCOLN3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
ATP6V0A2	B4GALT3	psi-mi:“MI:0914”(association)	0.530
TMEM95	EXTL3	psi-mi:“MI:0914”(association)	0.530
EVA1C	STK25	psi-mi:“MI:0914”(association)	0.530
NCEH1	CLGN	psi-mi:“MI:0914”(association)	0.530

BioGRID (133): LNX1 (Two-hybrid), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS)

ESM2 similar proteins: A1L237, A6QLQ8, A8E624, A8E627, B1H3D5, B1WBB4, O54861, O75339, O77636, O80977, P02752, P07357, P07358, P10493, P20717, P21128, P55314, P78536, P86009, P98136, P98137, Q09199, Q0EAB8, Q1LUM3, Q21109, Q3V188, Q3V5L5, Q3Y4E2, Q56ZQ3, Q5EAB6, Q5RCB9, Q5XIN7, Q64663, Q66K08, Q6PHU5, Q765H6, Q8BH35, Q8CGU9, Q8JFY9, Q8JIY1

Diamond homologs: P26572, P27115, P27808, Q09325, Q11068, Q5EAB6, Q5RCB9, Q5XIN7, Q8WZA1, Q91X88, Q9XGM8, A5PKI3, B0BLS9, P58499, P97805, P98173, Q5R5C3, Q6GQC1, Q7ZYY4, Q810F4, Q91VU0, Q92520, Q96BQ1, Q9D309, Q9D8T0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ZNF202	“down-regulates quantity by repression”	POMGNT1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 163 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Metal ion SLC transporters	6	34.4×	2e-06
R-HSA-425366	7	12.1×	1e-04
Transport of small molecules	14	3.4×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
zinc ion transmembrane transport	8	38.2×	2e-08
intracellular monoatomic cation homeostasis	5	38.2×	4e-05
L-glutamate transmembrane transport	5	27.3×	2e-04
intracellular zinc ion homeostasis	5	16.4×	2e-03
response to xenobiotic stimulus	10	4.7×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1090 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	62
Likely pathogenic	110
Uncertain significance	390
Likely benign	397
Benign	18

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1076645	NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs)	Pathogenic
1180732	NM_017739.4(POMGNT1):c.74G>A (p.Trp25Ter)	Pathogenic
1318184	NM_017739.4(POMGNT1):c.621G>T (p.Arg207Ser)	Pathogenic
1355167	NM_017739.4(POMGNT1):c.1365del (p.Arg455fs)	Pathogenic
1372541	NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter)	Pathogenic
1424394	NM_017739.4(POMGNT1):c.75del (p.Thr24_Trp25insTer)	Pathogenic
1452264	NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter)	Pathogenic
1453709	NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter)	Pathogenic
1459033	NC_000001.10:g.(?46654381)(46656466_?)del	Pathogenic
1459036	NC_000001.10:g.(?46663448)(46664153_?)del	Pathogenic
1919294	NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)	Pathogenic
1934388	NM_017739.4(POMGNT1):c.603_618delinsTCCCTTCAGATTCCTGA (p.Ala203fs)	Pathogenic
1996060	NM_017739.4(POMGNT1):c.1055_1059del (p.Gly352fs)	Pathogenic
2000675	NM_017739.4(POMGNT1):c.20del (p.Ser7fs)	Pathogenic
2008105	NM_017739.4(POMGNT1):c.1672dup (p.Ser558fs)	Pathogenic
2012115	NM_017739.4(POMGNT1):c.389dup (p.Ile131fs)	Pathogenic
2015596	NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)	Pathogenic
2018035	NM_017739.4(POMGNT1):c.586del (p.Leu196fs)	Pathogenic
2025161	NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)	Pathogenic
2072367	NM_017739.4(POMGNT1):c.990_991insAA (p.Gln331fs)	Pathogenic
2081702	NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)	Pathogenic
2412674	NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)	Pathogenic
2426343	NC_000001.10:g.(?46656382)(46662766_?)del	Pathogenic
2426346	NC_000001.10:g.(?46655193)(46661449_?)del	Pathogenic
254274	NM_017739.4(POMGNT1):c.1505G>C (p.Gly502Ala)	Pathogenic
254275	NM_017739.4(POMGNT1):c.359T>G (p.Leu120Arg)	Pathogenic
2570725	NM_017739.4(POMGNT1):c.1785+1G>C	Pathogenic
265399	NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	Pathogenic
2931939	NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)	Pathogenic
2933409	NM_017739.4(POMGNT1):c.87_90dup (p.Asn31fs)	Pathogenic

SpliceAI

3802 predictions. Top by Δscore:

Variant	Effect	Δscore
1:46189456:A:AC	donor_gain	1.0000
1:46189457:C:CC	donor_gain	1.0000
1:46189563:AGGCA:A	acceptor_gain	1.0000
1:46189564:GGCA:G	acceptor_gain	1.0000
1:46189565:GCA:G	acceptor_gain	1.0000
1:46189565:GCACT:G	acceptor_loss	1.0000
1:46189566:CA:C	acceptor_gain	1.0000
1:46189566:CAC:C	acceptor_gain	1.0000
1:46189567:AC:A	acceptor_loss	1.0000
1:46189568:C:CC	acceptor_gain	1.0000
1:46189569:T:G	acceptor_loss	1.0000
1:46189571:G:C	acceptor_gain	1.0000
1:46189571:G:GC	acceptor_gain	1.0000
1:46189577:G:C	acceptor_gain	1.0000
1:46189577:G:GC	acceptor_gain	1.0000
1:46189582:A:AC	acceptor_gain	1.0000
1:46189582:A:C	acceptor_gain	1.0000
1:46189986:CTCA:C	acceptor_gain	1.0000
1:46189988:CA:C	acceptor_gain	1.0000
1:46189990:C:CC	acceptor_gain	1.0000
1:46190518:C:CC	acceptor_gain	1.0000
1:46190730:T:TA	donor_gain	1.0000
1:46192094:TCA:T	donor_loss	1.0000
1:46192095:CACGT:C	donor_loss	1.0000
1:46192096:A:AC	donor_gain	1.0000
1:46192097:C:CG	donor_gain	1.0000
1:46192097:C:CT	donor_loss	1.0000
1:46192219:CAGAG:C	acceptor_gain	1.0000
1:46192222:AGC:A	acceptor_loss	1.0000
1:46192223:GC:G	acceptor_loss	1.0000

AlphaMissense

4324 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:46189553:C:A	W600C	1.000
1:46189553:C:G	W600C	1.000
1:46189555:A:G	W600R	1.000
1:46189555:A:T	W600R	1.000
1:46192124:C:G	G505R	1.000
1:46192139:G:C	H500D	1.000
1:46192205:A:G	W478R	1.000
1:46192205:A:T	W478R	1.000
1:46192210:T:A	D476V	1.000
1:46192210:T:G	D476A	1.000
1:46192212:C:A	W475C	1.000
1:46192212:C:G	W475C	1.000
1:46192214:A:G	W475R	1.000
1:46192214:A:T	W475R	1.000
1:46192323:C:A	W466C	1.000
1:46192323:C:G	W466C	1.000
1:46192325:A:G	W466R	1.000
1:46192325:A:T	W466R	1.000
1:46192370:A:G	W451R	1.000
1:46192370:A:T	W451R	1.000
1:46192529:A:G	W425R	1.000
1:46192529:A:T	W425R	1.000
1:46192924:A:G	L396P	1.000
1:46192927:T:A	D395V	1.000
1:46192927:T:G	D395A	1.000
1:46192930:T:A	E394V	1.000
1:46192933:T:A	E393V	1.000
1:46193199:A:G	L376P	1.000
1:46193201:G:C	S375R	1.000
1:46193201:G:T	S375R	1.000

dbSNP variants (sampled 300 via entrez): RS1000070305 (1:46221276 C>G), RS1000168804 (1:46195345 G>A), RS1000324694 (1:46201559 C>T), RS1000684728 (1:46220558 T>C), RS1000851011 (1:46196382 G>A), RS1000923988 (1:46201534 A>T), RS1001006969 (1:46188235 T>G), RS1001199591 (1:46209367 G>A), RS1001271545 (1:46209151 A>G), RS1001293653 (1:46215744 T>G), RS1001368942 (1:46215401 G>A), RS1001388776 (1:46195757 G>A,C), RS1001500098 (1:46202148 T>C), RS1001502483 (1:46208545 C>T), RS1001782757 (1:46190091 G>A)

Disease associations

OMIM: gene MIM:606822 | disease phenotypes: MIM:613151, MIM:613157, MIM:253280, MIM:617123, MIM:268000, MIM:253600

GenCC curated gene-disease

Disease	Classification	Inheritance
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Definitive	Autosomal recessive
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Definitive	Autosomal recessive
autosomal recessive limb-girdle muscular dystrophy type 2O	Definitive	Autosomal recessive
muscle-eye-brain disease	Definitive	Autosomal recessive
retinitis pigmentosa 76	Strong	Autosomal recessive
myopathy caused by variation in POMGNT1	Strong	Autosomal recessive
congenital muscular dystrophy with cerebellar involvement	Supportive	Autosomal recessive
retinitis pigmentosa	Supportive	Autosomal dominant
muscular dystrophy-dystroglycanopathy, type A	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
myopathy caused by variation in POMGNT1	Definitive	AR

Mondo (18): muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 (MONDO:0013155), autosomal recessive limb-girdle muscular dystrophy type 2O (MONDO:0013161), muscle-eye-brain disease (MONDO:0018939), muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 (MONDO:0009667), retinitis pigmentosa 76 (MONDO:0014929), inherited retinal dystrophy (MONDO:0019118), muscular dystrophy-dystroglycanopathy (MONDO:0018276), congenital nervous system disorder (MONDO:0002320), hydrocephalus (MONDO:0001150), retinitis pigmentosa (MONDO:0019200), optic atrophy (MONDO:0003608), limb-girdle muscular dystrophy (MONDO:0016971), autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), myopathy caused by variation in POMGNT1 (MONDO:0700068), retinal disorder (MONDO:0005283)

Orphanet (10): POMGNT1-related limb-girdle muscular dystrophy R15 (Orphanet:206564), Muscle-eye-brain disease (Orphanet:588), Walker-Warburg syndrome (Orphanet:899), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Congenital muscular dystrophy due to dystroglycanopathy (Orphanet:370953), Retinitis pigmentosa (Orphanet:791), Limb-girdle muscular dystrophy (Orphanet:263), Autosomal recessive limb-girdle muscular dystrophy (Orphanet:102015), Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (Orphanet:352687), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

165 total (30 of 165 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000158	Macroglossia
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000232	Everted lower lip vermilion
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000272	Malar flattening
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000411	Protruding ear
HP:0000482	Microcornea
HP:0000485	Megalocornea
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000525	Abnormality iris morphology
HP:0000528	Anophthalmia
HP:0000541	Retinal detachment
HP:0000543	Optic disc pallor
HP:0000545	Myopia
HP:0000546	Retinal degeneration

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_37	Body mass index	8.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D006849	Hydrocephalus	C10.228.140.602
D049288	Muscular Dystrophies, Limb-Girdle	C05.651.534.500.280; C10.668.491.175.500.149; C16.320.577.280
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
D058494	Walker-Warburg Syndrome	C10.500.507.450.499.249.500; C11.270.881; C16.131.666.507.450.499.249.500; C16.320.577.750
C538640	Limb-girdle muscular dystrophy autosomal recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2321629 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression, decreases expression	2
bisphenol A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
jinfukang	affects cotreatment, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Zoledronic Acid	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	increases expression	1
Phenobarbital	affects expression	1
Phthalic Acids	increases methylation	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Valproic Acid	affects expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases abundance, increases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases 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
CHEMBL2329319	Binding	Inhibition of human GNT1 using Man3-octyl as substrate at 0.5 mM after 1 hr in presence of phosphatidylcholine	Selective inhibition of glycosyltransferases by bivalent imidazolium salts. — Bioorg Med Chem

Cellosaurus cell lines

6 cell lines: 4 cancer cell line, 2 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3E8	Abcam HEK293T POMGNT1 KO	Transformed cell line	Female
CVCL_BX16	GM24202	Transformed cell line	Male
CVCL_D8TH	Ubigene HCT 116 POMGNT1 KO	Cancer cell line	Male
CVCL_S032	MDA-MB-231 SimpleCell O-GalNAC/O-Man	Cancer cell line	Female
CVCL_TF14	HAP1 POMGNT1 (-) 1	Cancer cell line	Male
CVCL_TF15	HAP1 POMGNT1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

386 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT01323764	PHASE4	COMPLETED	ShuntCheck Versus Radionuclide in Evaluating Shunt Function in Symptomatic NPH Patients
NCT01685450	PHASE4	UNKNOWN	NIMIP: Non Invasive Measurement of the Intracranial Pressure
NCT03513757	PHASE4	COMPLETED	Dexmedetomidine and Propofol for Pediatric MRI Sedation
NCT07547826	PHASE4	NOT_YET_RECRUITING	Efficacy and Cost-Effectiveness of Topical Vancomycin Powder in Preventing Pediatric Ventriculoperitoneal Shunt Infections Across Different Etiologies
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00196196	PHASE3	COMPLETED	A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System.
NCT00286104	PHASE3	COMPLETED	Impact of Ventricular Catheter Used With Antimicrobial Agents on Patients With a Ventricular Catheter
NCT01936272	PHASE3	ACTIVE_NOT_RECRUITING	Randomized Controlled Trial of Shunt vs ETV/CPC for PIH in Ugandan Infants
NCT02425761	PHASE3	UNKNOWN	The CSF Shunt Entry Site Trial
NCT02512809	PHASE3	TERMINATED	Isoflurane-induced Neuroinflammation in Children With Hydrocephalus
NCT04177914	PHASE3	RECRUITING	HCRN Endoscopic Versus Shunt Treatment of Hydrocephalus in Infants
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa