GUCA1B

Summary

GUCA1B (guanylate cyclase activator 1B, HGNC:4679) is a protein-coding gene on chromosome 6p21.1, encoding Guanylyl cyclase-activating protein 2 (Q9UMX6). Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated.

The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa.

Source: NCBI Gene 2979 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinitis pigmentosa 48 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 246 total
• Phenotypes (HPO): 34
• MANE Select transcript: NM_002098

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4679
Approved symbol	GUCA1B
Name	guanylate cyclase activator 1B
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	GCAP2, RP48, GCAP-2, GCAP-II
Ensembl gene	ENSG00000112599
Ensembl biotype	protein_coding
OMIM	602275
Entrez	2979

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000230361

RefSeq mRNA: 1 — MANE Select: NM_002098 NM_002098

CCDS: CCDS4865

Canonical transcript exons

ENST00000230361 — 4 exons

Exon	Start	End
ENSE00000751138	42185680	42185797
ENSE00000751139	42188582	42188731
ENSE00001859064	42194614	42194956
ENSE00001947171	42183284	42184942

Expression profiles

Bgee: expression breadth ubiquitous, 188 present calls, max score 78.26.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1737 / max 153.8117, expressed in 6 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73601	0.1737	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.26	gold quality
buccal mucosa cell	CL:0002336	72.50	gold quality
cerebellar hemisphere	UBERON:0002245	71.93	gold quality
cerebellar cortex	UBERON:0002129	71.84	gold quality
granulocyte	CL:0000094	70.79	gold quality
right hemisphere of cerebellum	UBERON:0014890	70.48	gold quality
cerebellum	UBERON:0002037	70.24	gold quality
pancreatic ductal cell	CL:0002079	70.14	silver quality
tibialis anterior	UBERON:0001385	69.71	silver quality
gastrocnemius	UBERON:0001388	69.54	gold quality
heart right ventricle	UBERON:0002080	69.26	gold quality
muscle of leg	UBERON:0001383	69.12	gold quality
stromal cell of endometrium	CL:0002255	68.87	gold quality
tibial nerve	UBERON:0001323	68.85	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	68.75	gold quality
trabecular bone tissue	UBERON:0002483	68.74	silver quality
lower esophagus mucosa	UBERON:0035834	68.26	gold quality
muscle organ	UBERON:0001630	68.25	gold quality
skeletal muscle organ	UBERON:0014892	68.25	gold quality
right uterine tube	UBERON:0001302	68.23	gold quality
skin of leg	UBERON:0001511	67.89	gold quality
right ovary	UBERON:0002118	67.76	gold quality
body of uterus	UBERON:0009853	67.73	gold quality
left ovary	UBERON:0002119	67.60	gold quality
skin of hip	UBERON:0001554	67.38	gold quality
type B pancreatic cell	CL:0000169	67.13	gold quality
mucosa of stomach	UBERON:0001199	67.00	gold quality
endocervix	UBERON:0000458	66.75	gold quality
Brodmann (1909) area 23	UBERON:0013554	66.68	silver quality
middle temporal gyrus	UBERON:0002771	66.66	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	2978.30
E-MTAB-7316	yes	42.05
E-GEOD-137537	yes	19.94
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

61 targeting GUCA1B, 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-432-3P	100.00	67.86	705
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-548J-3P	99.94	72.61	4881
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-627-3P	99.90	71.42	3316
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-765	99.84	68.24	2442
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-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6764-5P	99.75	67.89	2304

Literature-anchored findings (GeneRIF, showing 6)

• Mutation in the GCAP 2 gene can cause one form of autosomal dominant retinal dystrophy, with variable phenotypic expression and incomplete penetrance. (PMID:15452722)
• The absence of clearly pathogenic mutations in the selected patient group suggests that the GUCA1B gene is a minor cause for retinal degenerations in Europeans or North-Americans. (PMID:21405999)
• The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1. (PMID:25616661)
• Dimerization domain of RETGC1 is an essential part of GCAP1 and GCAP2 binding interface. (PMID:26100624)
• GCAP1 and GCAP2 bound to different regions on the target guanylate cyclase type 1 with submicromolar affinity (apparent KD-values of 663 +/- 121 nM and 231 +/- 63 nM for Ca(2+)-free GCAP1 and GCAP2, respectively). (PMID:28361875)
• Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R. (PMID:33812995)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	guca1b	ENSDARG00000013393
mus_musculus	Guca1b	ENSMUSG00000023979
rattus_norvegicus	Guca1b	ENSRNOG00000015623
drosophila_melanogaster	CG7646	FBGN0036926
drosophila_melanogaster	CG5890	FBGN0039380
caenorhabditis_elegans	ncs-2	WBGENE00003564
caenorhabditis_elegans		WBGENE00015867

Paralogs (14): CLXN (ENSG00000034239), GUCA1A (ENSG00000048545), NCALD (ENSG00000104490), NCS1 (ENSG00000107130), RCVRN (ENSG00000109047), KCNIP3 (ENSG00000115041), HPCAL1 (ENSG00000115756), HPCAL4 (ENSG00000116983), KCNIP2 (ENSG00000120049), HPCA (ENSG00000121905), GUCA1C (ENSG00000138472), VSNL1 (ENSG00000163032), KCNIP1 (ENSG00000182132), KCNIP4 (ENSG00000185774)

Protein

Protein identifiers

Guanylyl cyclase-activating protein 2 — Q9UMX6 (reviewed: Q9UMX6)

Alternative names: Guanylate cyclase activator 1B

All UniProt accessions (1): Q9UMX6

UniProt curated annotations — full annotation on UniProt →

Function. Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GCs is a key event in recovery of the dark state of rod photoreceptors following light exposure. May be involved in cone photoreceptor response and recovery of response in bright light.

Subcellular location. Cell membrane. Photoreceptor inner segment. Cell projection. Cilium. Photoreceptor outer segment.

Tissue specificity. In the retina, it is expressed in cone and rod photoreceptor cells.

Post-translational modifications. The N-terminus is blocked.

Disease relevance. Retinitis pigmentosa 48 (RP48) [MIM:613827] 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. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Binds three calcium ions.

RefSeq proteins (1): NP_002089* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR028846	Recoverin	Family

Pfam: PF13202, PF13499

UniProt features (25 total): binding site 15, domain 4, sequence variant 2, initiator methionine 1, chain 1, lipid moiety-binding region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UMX6-F1	71.38	0.03

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 (15): 77; 102; 104; 106; 108; 113; 154; 156; 158; 160; 165; 66 …

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2514859	Inactivation, recovery and regulation of the phototransduction cascade

MSigDB gene sets: 159 (showing top): MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_PHOTOTRANSDUCTION, PID_CONE_PATHWAY, GOBP_CELL_CELL_SIGNALING, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_SECRETION, GOBP_RESPONSE_TO_RADIATION, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_BODY_FLUID_SECRETION, GOCC_NEURON_PROJECTION

GO Biological Process (6): receptor guanylyl cyclase signaling pathway (GO:0007168), cell-cell signaling (GO:0007267), body fluid secretion (GO:0007589), visual perception (GO:0007601), phototransduction (GO:0007602), regulation of signal transduction (GO:0009966)

GO Molecular Function (5): calcium ion binding (GO:0005509), calcium sensitive guanylate cyclase activator activity (GO:0008048), protein binding (GO:0005515), guanylate cyclase regulator activity (GO:0030249), metal ion binding (GO:0046872)

GO Cellular Component (12): photoreceptor inner segment (GO:0001917), nucleoplasm (GO:0005654), plasma membrane (GO:0005886), cilium (GO:0005929), microtubule cytoskeleton (GO:0015630), nuclear membrane (GO:0031965), ciliary basal body (GO:0036064), photoreceptor disc membrane (GO:0097381), cone photoreceptor outer segment (GO:0120199), photoreceptor outer segment (GO:0001750), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
The phototransduction cascade	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
signal transduction	2
organelle membrane	2
photoreceptor outer segment	2
enzyme-linked receptor protein signaling pathway	1
cell communication	1
signaling	1
secretion	1
regulation of body fluid levels	1
sensory perception of light stimulus	1
detection of light stimulus	1
regulation of cell communication	1
regulation of signaling	1
regulation of response to stimulus	1
metal ion binding	1
guanylate cyclase activator activity	1
binding	1
guanylate cyclase activity	1
cyclase regulator activity	1
cation binding	1
nuclear lumen	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
nucleus	1
nuclear envelope	1
microtubule organizing center	1
cilium	1
photoreceptor cell cilium	1

Protein interactions and networks

STRING

1777 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GUCA1B	GUCY2D	Q02846	967
GUCA1B	PRCD	Q00LT1	884
GUCA1B	PDE6B	P35913	830
GUCA1B	MERTK	Q12866	812
GUCA1B	GUCY2F	P51841	789
GUCA1B	FSCN2	O14926	786
GUCA1B	TULP1	O00294	785
GUCA1B	PDE6A	P16499	773
GUCA1B	GUF1	Q8N442	760
GUCA1B	RDH12	Q96NR8	760
GUCA1B	CNGA1	P29973	758
GUCA1B	PDE6G	P18545	752
GUCA1B	CRX	O43186	747
GUCA1B	RP9	Q8TA86	745
GUCA1B	AIPL1	Q9NZN9	742

IntAct

6 interactions, top by confidence:

A	B	Type	Score
OTX2	GUCA1B	psi-mi:“MI:0915”(physical association)	0.560
GUCA1B	LYPLA1	psi-mi:“MI:0914”(association)	0.350
C1RL	PTBP3	psi-mi:“MI:0914”(association)	0.350
GUCA1B	OTX2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (8): OTX2 (Two-hybrid), GBA (Affinity Capture-MS), YWHAE (Affinity Capture-MS), GUCA1B (Affinity Capture-MS), SRC (Affinity Capture-MS), SCARB2 (Affinity Capture-MS), LYPLA1 (Affinity Capture-MS), GUCA1B (Affinity Capture-MS)

ESM2 similar proteins: A0AVX7, A2VEI2, F4J0W4, O43745, O70200, O73761, O73762, P04354, P04467, P05937, P07171, P12658, P22728, P41044, P43080, P43081, P46065, P51177, P55008, P61022, P61023, P79880, P81076, Q0V9B1, Q1LWZ0, Q298L5, Q3KQ77, Q3SYS6, Q3T024, Q4R760, Q4V7T8, Q5R4V1, Q5R7F0, Q5TM25, Q5U554, Q5ZM44, Q6P8Y1, Q810D1, Q8IMX7, Q8R426

Diamond homologs: A9JTH1, B3DLU1, B3VSB7, B5FZ84, O73761, O73762, O73763, O95843, P21457, P22728, P25296, P29104, P29105, P31227, P34057, P35243, P35332, P36608, P36609, P37235, P37236, P42322, P42324, P42325, P43080, P43081, P46065, P51177, P61601, P61602, P62166, P62167, P62168, P62748, P62749, P62758, P62759, P62760, P62761, P62762

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	141
Likely benign	55
Benign	26

Top pathogenic / likely-pathogenic (0)

SpliceAI

438 predictions. Top by Δscore:

Variant	Effect	Δscore
6:42185674:TCTTA:T	donor_loss	1.0000
6:42185675:CTTAC:C	donor_loss	1.0000
6:42185676:TTA:T	donor_loss	1.0000
6:42185677:TA:T	donor_loss	1.0000
6:42185678:A:AC	donor_gain	1.0000
6:42185679:C:CC	donor_gain	1.0000
6:42185679:CCAT:C	donor_gain	1.0000
6:42185793:ATTCC:A	acceptor_gain	1.0000
6:42185794:TTCC:T	acceptor_gain	1.0000
6:42185795:TCC:T	acceptor_gain	1.0000
6:42185796:CC:C	acceptor_gain	1.0000
6:42185796:CCC:C	acceptor_gain	1.0000
6:42185797:CC:C	acceptor_gain	1.0000
6:42185798:C:CC	acceptor_gain	1.0000
6:42188577:CTAA:C	donor_loss	1.0000
6:42188578:TAACC:T	donor_loss	1.0000
6:42188579:AAC:A	donor_loss	1.0000
6:42194612:AC:A	donor_gain	1.0000
6:42194612:ACC:A	donor_gain	1.0000
6:42194613:CC:C	donor_gain	1.0000
6:42194613:CCC:C	donor_gain	1.0000
6:42184938:CTGGC:C	acceptor_gain	0.9900
6:42184943:C:CC	acceptor_gain	0.9900
6:42184944:T:C	acceptor_loss	0.9900
6:42184948:C:CT	acceptor_gain	0.9900
6:42184949:A:T	acceptor_gain	0.9900
6:42185724:T:TA	donor_gain	0.9900
6:42185798:C:A	acceptor_loss	0.9900
6:42185798:C:T	acceptor_gain	0.9900
6:42185802:C:CT	acceptor_gain	0.9900

AlphaMissense

1344 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:42188645:G:C	F98L	0.997
6:42188645:G:T	F98L	0.997
6:42188647:A:G	F98L	0.997
6:42188714:G:C	F75L	0.995
6:42188714:G:T	F75L	0.995
6:42188716:A:G	F75L	0.995
6:42194737:A:C	F28L	0.995
6:42194737:A:T	F28L	0.995
6:42194739:A:G	F28L	0.995
6:42188598:A:G	L114P	0.994
6:42194635:G:C	F62L	0.994
6:42194635:G:T	F62L	0.994
6:42194637:A:G	F62L	0.994
6:42184920:A:C	F166L	0.992
6:42184920:A:T	F166L	0.992
6:42184922:A:G	F166L	0.992
6:42188709:T:A	E77V	0.991
6:42184921:A:G	F166S	0.990
6:42188653:A:G	W96R	0.990
6:42188653:A:T	W96R	0.990
6:42188646:A:G	F98S	0.989
6:42188658:A:G	L94P	0.989
6:42184909:G:T	A170D	0.988
6:42188715:A:G	F75S	0.988
6:42194636:A:G	F62S	0.988
6:42188721:A:T	I73N	0.987
6:42194738:A:G	F28S	0.987
6:42188697:G:T	A81D	0.985
6:42194696:A:G	F42S	0.985
6:42184936:A:G	L161P	0.984

dbSNP variants (sampled 300 via entrez): RS1000214216 (6:42182831 T>G), RS1000218414 (6:42192040 A>C), RS1000317478 (6:42185810 ACTC>A), RS1000848316 (6:42196377 G>C), RS1001077580 (6:42189700 A>C), RS1001081272 (6:42184334 G>A), RS1001135070 (6:42184077 C>G,T), RS1001364873 (6:42189318 T>C), RS1001414716 (6:42195240 G>C,T), RS1001676024 (6:42195519 G>A), RS1001728693 (6:42195111 A>G), RS1001864719 (6:42190294 T>TC), RS1002060835 (6:42196731 T>C), RS1002211821 (6:42184559 C>T), RS1002494270 (6:42196660 A>G)

Disease associations

OMIM: gene MIM:602275 | disease phenotypes: MIM:613827, MIM:268000, MIM:204000

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 48	Strong	Autosomal dominant
retinitis pigmentosa	Supportive	Autosomal dominant

Mondo (4): retinitis pigmentosa 48 (MONDO:0013447), retinitis pigmentosa (MONDO:0019200), inherited retinal dystrophy (MONDO:0019118), Leber congenital amaurosis (MONDO:0018998)

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

HPO phenotypes

34 total (30 of 34 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
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:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000608	Macular degeneration
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007703	Abnormal retinal pigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0007787	Posterior subcapsular cataract
HP:0007843	Attenuation of retinal blood vessels
HP:0007994	Peripheral visual field loss
HP:0008046	Abnormal retinal vascular morphology
HP:0011505	Cystoid macular edema
HP:0012426	Optic disc drusen

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	increases expression	1
tebuconazole	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects expression	1
Benzo(a)pyrene	decreases expression	1
Cisplatin	decreases expression	1
Lead	affects expression	1
Quercetin	increases expression	1
Tretinoin	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

276 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
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
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NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
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NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
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NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT00063765	PHASE1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye