CYP4V2

Summary

CYP4V2 (cytochrome P450 family 4 subfamily V member 2, HGNC:23198) is a protein-coding gene on chromosome 4q35.1-q35.2, encoding Cytochrome P450 4V2 (Q6ZWL3). A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye.

This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy.

Source: NCBI Gene 285440 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Bietti crystalline corneoretinal dystrophy (Definitive, ClinGen)
• GWAS associations: 6
• Clinical variants (ClinVar): 642 total — 64 pathogenic, 20 likely-pathogenic
• Phenotypes (HPO): 27
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_207352

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23198
Approved symbol	CYP4V2
Name	cytochrome P450 family 4 subfamily V member 2
Location	4q35.1-q35.2
Locus type	gene with protein product
Status	Approved
Aliases	CYP4AH1
Ensembl gene	ENSG00000145476
Ensembl biotype	protein_coding
OMIM	608614
Entrez	285440

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000378802, ENST00000502665, ENST00000507209, ENST00000513354, ENST00000905173, ENST00000905174, ENST00000905175, ENST00000905176, ENST00000905177

RefSeq mRNA: 1 — MANE Select: NM_207352 NM_207352

CCDS: CCDS34119

Canonical transcript exons

ENST00000378802 — 11 exons

Exon	Start	End
ENSE00000970683	186194500	186194612
ENSE00001016609	186197533	186197602
ENSE00001305495	186201157	186201342
ENSE00001312862	186196003	186196088
ENSE00001328816	186196940	186197130
ENSE00001423204	186191567	186192037
ENSE00002024949	186210469	186213463
ENSE00003557627	186205200	186205302
ENSE00003600520	186209093	186209272
ENSE00003634622	186208865	186208999
ENSE00003684442	186198957	186199083

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 97.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.6332 / max 168.2738, expressed in 1697 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
50900	4.4770	1493
50903	3.4385	1136
50901	0.7408	401
50902	0.5659	311
50897	0.4302	204
50899	0.3682	194
50896	0.3185	123
50898	0.2942	120

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	97.54	gold quality
ileal mucosa	UBERON:0000331	95.49	gold quality
liver	UBERON:0002107	95.34	gold quality
epithelial cell of pancreas	CL:0000083	94.72	gold quality
right lobe of liver	UBERON:0001114	94.71	gold quality
jejunal mucosa	UBERON:0000399	91.69	gold quality
pigmented layer of retina	UBERON:0001782	91.03	gold quality
cardiac muscle of right atrium	UBERON:0003379	90.53	gold quality
islet of Langerhans	UBERON:0000006	90.00	gold quality
gall bladder	UBERON:0002110	89.89	gold quality
right adrenal gland cortex	UBERON:0035827	89.47	gold quality
left ventricle myocardium	UBERON:0006566	89.04	gold quality
left adrenal gland cortex	UBERON:0035825	89.00	gold quality
adrenal cortex	UBERON:0001235	88.77	gold quality
left adrenal gland	UBERON:0001234	88.48	gold quality
pancreas	UBERON:0001264	88.46	gold quality
renal medulla	UBERON:0000362	88.12	gold quality
body of pancreas	UBERON:0001150	88.09	gold quality
right adrenal gland	UBERON:0001233	88.02	gold quality
visceral pleura	UBERON:0002401	87.99	gold quality
duodenum	UBERON:0002114	87.94	gold quality
adult mammalian kidney	UBERON:0000082	87.87	gold quality
oviduct epithelium	UBERON:0004804	87.83	gold quality
kidney	UBERON:0002113	87.82	gold quality
layer of synovial tissue	UBERON:0007616	87.59	gold quality
calcaneal tendon	UBERON:0003701	87.32	gold quality
adrenal gland	UBERON:0002369	87.28	gold quality
parietal pleura	UBERON:0002400	86.20	gold quality
metanephros cortex	UBERON:0010533	85.94	gold quality
rectum	UBERON:0001052	85.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SRY

miRNA regulators (miRDB)

149 targeting CYP4V2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-651-3P	99.94	73.48	5177

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 (PMID:15042513)
• Our findings suggest that the IVS6 to 8delTCATACAGGTCATCGCG/insGC mutation is a common mutation in Japanese patients with BCD (Bietti’s crystalline corneoretinal dystrophy) (PMID:15860296)
• In two patients, a homozygous and compound heterozygote, deletion/insertion mutations and novel nonsense (p.W340X) mutations were identified. (PMID:16088246)
• Our finding expands the spectrum of CYP4V2 mutations causing BCD, and further confirms the role of CYP4V2 in the pathogenesis of BCD (Bietti crystalline corneoretinal dystrophy). (PMID:16179904)
• This study identified novel mutations in the CYP4V2 gene as a cause of BCD. A high carrier frequency for the 15-bp deletion in exon 7 may exist in the Singapore population. (PMID:16186368)
• A homozygous mutation was identified in two of the unrelated patients, and only a heterozygous change was detected in the third. These data indicate that c.802-8del17bp/insGC may be a frequent mutation in CYP4V2 gene (PMID:17013694)
• CYP4V2 gene mutations may have a role in Bietti crystalline corneoretinal dystrophy (PMID:17249554)
• BCD (Bietti’s crystalline dystrophy) patients with homozygous IVS6-8del17bp/insGC or compound heterozygous IVS6-8del17bp/insGC and IVS8-2A>G mutations appeared to have more severe disease phenotype based on electrophysiological testing. (PMID:17962476)
• SNPs in the region around the SNP in CYP4V2 (rs13146272) were associated with both deep vein thrombosis and factor XI levels. (PMID:18349091)
• crystal-like deposits may appear on the lens capsule of patients with Bietti crystalline corneoretinal dystrophy(BCD) associated with a mutation in the CYP4V2 gene. (PMID:19508456)
• Defective omega-oxidation of ocular fatty acids/lipids secondary to mutations in the CYP4V2 gene appears to be a plausible mechanism underlying the abnormal lipid metabolism of Bietti’s crystalline dystrophy. (PMID:19661213)
• We describe a patient with Bietti crystalline dystrophy with a CYP4V2 gene mutation and typical leukocyte inclusions who showed the classical retinal lesions but had a normal electroretinogram. (PMID:21385027)
• REVIEW: genetic analyses have identified a wide spectrum of mutations in the CYP4V2gene from patients suffering from Bietti’s crystalline corneoretinal dystrophy, and mutations in theCYP4F22 gene have been linked to lamellar ichthyosis (PMID:21540472)
• these results expand the mutation spectrum of CYP4V2 and demonstrate an overview of the CYP4V2 mutation spectrum and its frequency in families with Bietti crystalline corneoretinal dystrophy. (PMID:21565171)
• Four novel benign variations in the CYP4V2 gene (three in exons and one in an intron) were observed in the patient cohort with Bietti crystalline dystrophy associated with choroidal neovascularization. (PMID:21850171)
• This study identified the most sensitive functional methods for assessing Bietti’s crystalline dystrophy patients, and the significance of pupillary light reflex in the advanced stages. (PMID:21892605)
• Two mutations in CYP4V2 were found in three Lebanese families with Bietti crystalline dystrophy: p.I111T (c.332T>C) in exon 3 in two families and the novel p.V458M (c.1372G>A) mutation in exon 9 in one family. (PMID:22605929)
• Compound heterozygous c.802-8_810del17insGC and c.1091-2A>G mutations of the CYP4V2 gene were identified as causative mutations for retinitis pigmentosa (PMID:22693542)
• Sequencing of CYP4V2 revealed nine sequence variants in four unrelated families and six isolated individuals with BCD. (PMID:23221965)
• The entire coding region and adjacent intronic regions of the CYP4V2 gene were sequenced. Five mutations were identified in the 29-year-old male with Bietti’s crystalline dystrophy. (PMID:23242590)
• The authors identified a case of Bietti crystalline dystrophy with central and paracentral keratopathy and the molecular analysis of the causative gene in a Spanish family. (PMID:23538635)
• This finding suggests that the crystals in the lens of patients with Bietti crystalline corneoretinopathy may be produced in the same way as corneal or retinal crystalline deposits and therefore result from a systemic abnormality of lipid metabolism. (PMID:23793346)
• Likely disease-causing variants were identified in 34 chromosomes from 17 families. Seven were novel, including p.Met66Arg, found in all 11 patients from 8 families of South Asian descent. (PMID:24480711)
• cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) c.219T>A (p.F73L) mutation may be a recurrent mutation in Chinese patients with Bietti crystalline dystrophy (BCD). (PMID:24739949)
• Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with Bietti’s crystalline dystrophy. (PMID:25593508)
• In Bietti crystalline dystrophy patients with CYP4V2 mutations, cone density remained for visual dysfunction by evaluation using high-resolution AO-SLO. (PMID:26521715)
• Genetic analysis of the CYP4V2 gene revealed a c.802-8_810delinsGC homozygote mutation. (PMID:26865810)
• Our findings broaden the spectrum of CYP4V2 mutations that cause BCD and the phenotypic spectrum of the disease in Chinese families. These results will be useful for the genetic diagnosis of BCD, genetic consultation, and gene therapy in the future. (PMID:26971461)
• Photoreceptor outer segment and apical retinal pigment epithelium abnormalities underlie the relatively extensive retinal dysfunction observed in relatively early-stage Bietti crystalline dystrophy. Intravitreal Bevacizumab was effective in treating CNV in this setting. (PMID:27028354)
• In summary, we confirmed that the choroideremia-like fundus appearance of our patient was caused by the novel homozygous CYP4V2 variant. (PMID:27348340)
• Bietti crystalline dystrophy patients with CYP4V2 mutations showed more severe macular choroid atrophy as compared to EYS-related RP patients. These different damage patterns suggest differences in choroidal expression between CYP4V2 and EYS. (PMID:27658286)
• Nineteen missense, 4 nonsense, 2 deletion, 2 splice site, and 1 insertion-deletion mutations were identified in in patients with Bietti crystalline corneoretinal dystrophy. The age of the c.802-8_810del17insGC mutation was estimated to be 1040-8200 generations in the Chinese and 300-1100 generations in the Japanese populations. (PMID:28051075)
• The results of this study demonstrate that causative variants identified in the CTNNA1 and CYP4V2 genes are also associated with Leber Congenital Amaurosis. (PMID:28453600)
• This is the first report of a homozygous R400C mutation in CYP4V2 with protein modelling showing high likelihood of enzyme dysfunction. The comprehensive long-term clinical follow-up provides insight into disease progression and highlights possible anti-inflammatory modulation of disease severity. (PMID:28698241)
• Expression levels of both CYP4V2 mRNA and protein were significantly reduced after treatment with peroxisome proliferator-activated receptor gamma (PPARgamma) antagonist GW9662 (PMID:28729181)
• We found that the subfoveal choroidal thickness and the outer choroidal vascular area were smaller in Bietti Crystalline Dystrophy patients with CYP4V2 mutations than in age-, sex-, AL-, and logMAR VA-matched RP patients with EYS mutations or age-, sex-, and AL-matched healthy controls. (PMID:28763560)
• To the best of our knowledge, this study represents the largest effort to determine the genetic alterations underlying Bietti crystalline dystrophy (BCD) in Spain to date. Our results show that analysis of CYP4V2 variants is required for a reliable diagnosis of BCD. (PMID:29691984)
• In conclusion, the results of this pooled systematic study indicated that individuals with the A allele had a higher risk of developing venous thromboembolism than those with the C allele of the rs13146272 variant, but the risk was inconsistent among different ethnicities. (PMID:30276487)
• The patients with mutations in CYP4V2 showed wide intra- and interfamilial variability in clinical severity. The findings expand the mutational spectrum of CYP4V2 and further confirm the c.802-8_810del17insGC mutation was due to a founder effect in a large cohort of Chinese patients. (PMID:30429639)
• Mutation in the CYP4V2 gene is associated with Bietti’s crystalline dystrophy. (PMID:31512983)

Cross-species orthologs

32 orthologs

Organism	Symbol	Gene ID
danio_rerio	cyp4v2b	ENSDARG00000061585
danio_rerio	cyp4v2a	ENSDARG00000062132
mus_musculus	Cyp4v3	ENSMUSG00000079057
rattus_norvegicus	Cyp4v3	ENSRNOG00000042426
drosophila_melanogaster	Cyp4d1	FBGN0005670
drosophila_melanogaster	Cyp4d2	FBGN0011576
drosophila_melanogaster	Cyp4e2	FBGN0014469
drosophila_melanogaster	Cyp4c3	FBGN0015032
drosophila_melanogaster	Cyp4d8	FBGN0015033
drosophila_melanogaster	Cyp4e1	FBGN0015034
drosophila_melanogaster	Cyp4e3	FBGN0015035
drosophila_melanogaster	Cyp4ae1	FBGN0015036
drosophila_melanogaster	Cyp4p1	FBGN0015037
drosophila_melanogaster	Cyp4d14	FBGN0023541
drosophila_melanogaster	Cyp4s3	FBGN0030615
drosophila_melanogaster	Cyp4ac1	FBGN0031693
drosophila_melanogaster	Cyp4ac2	FBGN0031694
drosophila_melanogaster	Cyp4ac3	FBGN0031695
drosophila_melanogaster	Cyp4d21	FBGN0031925
drosophila_melanogaster	Cyp4ad1	FBGN0033292
drosophila_melanogaster	Cyp4p2	FBGN0033395
drosophila_melanogaster	Cyp4p3	FBGN0033397
drosophila_melanogaster	Cyp4aa1	FBGN0034053
drosophila_melanogaster	Cyp4d20	FBGN0035344
drosophila_melanogaster	Cyp312a1	FBGN0036778
caenorhabditis_elegans		WBGENE00007140
caenorhabditis_elegans		WBGENE00009226
caenorhabditis_elegans		WBGENE00010354
caenorhabditis_elegans		WBGENE00013381
caenorhabditis_elegans		WBGENE00016147
caenorhabditis_elegans		WBGENE00021200
caenorhabditis_elegans		WBGENE00021412

Paralogs (12): CYP19A1 (ENSG00000137869), CYP4B1 (ENSG00000142973), CYP4A22 (ENSG00000162365), CYP4F11 (ENSG00000171903), CYP4F22 (ENSG00000171954), CYP4F2 (ENSG00000186115), CYP4Z1 (ENSG00000186160), CYP4F12 (ENSG00000186204), CYP4X1 (ENSG00000186377), CYP4F8 (ENSG00000186526), CYP4F3 (ENSG00000186529), CYP4A11 (ENSG00000187048)

Protein

Protein identifiers

Cytochrome P450 4V2 — Q6ZWL3 (reviewed: Q6ZWL3)

Alternative names: Docosahexaenoic acid omega-hydroxylase CYP4V2, Long-chain fatty acid omega-monooxygenase

All UniProt accessions (1): Q6ZWL3

UniProt curated annotations — full annotation on UniProt →

Function. A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye. Catalyzes the omega-hydroxylation of polyunsaturated fatty acids (PUFAs) docosahexaenoate (DHA) and its precursor eicosapentaenoate (EPA), and may contribute to the homeostasis of these retinal PUFAs. Omega hydroxylates saturated fatty acids such as laurate, myristate and palmitate, the catalytic efficiency decreasing in the following order: myristate > laurate > palmitate (C14>C12>C16). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes.

Disease relevance. Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by N-hydroxy-N’-(4-n-butyl-2-methylphenyl formamidine)(HET0016) with an IC(50) of 38 nM.

Pathway. Lipid metabolism; fatty acid metabolism.

Similarity. Belongs to the cytochrome P450 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZWL3-1	1	yes
Q6ZWL3-2	2

RefSeq proteins (1): NP_997235* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001128	Cyt_P450	Family
IPR002401	Cyt_P450_E_grp-I	Family
IPR017972	Cyt_P450_CS	Conserved_site
IPR036396	Cyt_P450_sf	Homologous_superfamily
IPR050196	Cytochrome_P450_Monoox	Family

Pfam: PF00067

Enzyme classification (BRENDA):

• EC 1.14.14.79 — docosahexaenoic acid omega-hydroxylase (BRENDA: 1 organisms, 8 substrates, 13 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 5 shown:

• dodecanoate + reduced [NADPH–hemoprotein reductase] + O2 = 12-hydroxydodecanoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:38947)
• (5Z,8Z,11Z,14Z,17Z)-eicosapentaenoate + reduced [NADPH–hemoprotein reductase] + O2 = 20-hydroxy-(5Z,8Z,11Z,14Z,17Z)-eicosapentaenoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:39791)
• (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + reduced [NADPH–hemoprotein reductase] + O2 = 22-hydroxy-(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:40155)
• hexadecanoate + reduced [NADPH–hemoprotein reductase] + O2 = 16-hydroxyhexadecanoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:40199)
• tetradecanoate + reduced [NADPH–hemoprotein reductase] + O2 = 14-hydroxytetradecanoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:40203)

UniProt features (19 total): sequence variant 14, binding site 2, chain 1, transmembrane region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZWL3-F1	91.05	0.78

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 (2): 329 (covalent); 467 (axial binding residue)

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-211976	Endogenous sterols
R-HSA-2453902	The canonical retinoid cycle in rods (twilight vision)

MSigDB gene sets: 226 (showing top): GOBP_LIPID_MODIFICATION, REACTOME_BIOLOGICAL_OXIDATIONS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOLDRATH_IMMUNE_MEMORY, REACTOME_ENDOGENOUS_STEROLS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, HOWLIN_PUBERTAL_MAMMARY_GLAND, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, HEN1_01, chr4q35, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SENSORY_PERCEPTION

GO Biological Process (6): retinoid metabolic process (GO:0001523), visual perception (GO:0007601), fatty acid omega-oxidation (GO:0010430), sterol metabolic process (GO:0016125), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)

GO Molecular Function (9): iron ion binding (GO:0005506), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709), heme binding (GO:0020037), long-chain fatty acid omega-hydroxylase activity (GO:0102033), monooxygenase activity (GO:0004497), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705), metal ion binding (GO:0046872)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Cytochrome P450 - arranged by substrate type	1
Visual phototransduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oxidoreductase activity	2
diterpenoid metabolic process	1
sensory perception of light stimulus	1
fatty acid oxidation	1
steroid metabolic process	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
transition metal ion binding	1
monooxygenase activity	1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	1
tetrapyrrole binding	1
fatty acid omega-hydroxylase activity	1
binding	1
catalytic activity	1
cation binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1850 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CYP4V2	GFM1	Q96RP9	824
CYP4V2	AACS	Q86V21	517
CYP4V2	STAU1	O95793	513
CYP4V2	FAM149A	A5PLN7	483
CYP4V2	EYS	Q5T1H1	482
CYP4V2	USH2A	O75445	458
CYP4V2	RPGR	Q92834	445
CYP4V2	ABCA4	P78363	436
CYP4V2	PRPF31	Q8WWY3	432
CYP4V2	FSCN2	O14926	418
CYP4V2	ZNF513	Q8N8E2	412
CYP4V2	WDR37	Q9Y2I8	411
CYP4V2	CHKA	P35790	407
CYP4V2	CBLN3	Q6UW01	407
CYP4V2	ROM1	Q03395	407

IntAct

5 interactions, top by confidence:

A	B	Type	Score
CYP4V2	GATC	psi-mi:“MI:0914”(association)	0.560
CYP4V2	GATC	psi-mi:“MI:0915”(physical association)	0.560
ZNF420	CYP4V2	psi-mi:“MI:0915”(physical association)	0.370
PB2	SEC15L3	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): GATC (Affinity Capture-MS), NEMF (Affinity Capture-MS), CYP4V2 (Affinity Capture-RNA), CYP4V2 (Protein-RNA), CYP4V2 (Proximity Label-MS), CYP4V2 (Proximity Label-MS), CYP4V2 (Negative Genetic), GATC (Affinity Capture-MS), CYP4V2 (Affinity Capture-RNA), SIN3A (Affinity Capture-Western), CYP4V2 (Affinity Capture-Luminescence), ZNF420 (Two-hybrid)

ESM2 similar proteins: A2RRT9, O16805, O18596, O46051, O46054, P13527, P15129, P29981, P33269, P33274, P51869, P51870, P51871, P78329, P98187, Q08477, Q27518, Q27589, Q27606, Q27698, Q27712, Q3MID2, Q5RCN6, Q6NT55, Q6ZWL3, Q964T1, Q99N16, Q9DBW0, Q9EP75, Q9GLL1, Q9HBI6, Q9HCS2, Q9V3S0, Q9V4T5, Q9V557, Q9V558, Q9V674, Q9V675, Q9V7G5, Q9VA27

Diamond homologs: A0A067DT54, A0A067E1K2, A0A0S2II38, A0A140JWM8, A0A1B4XBH8, A0A1W5T1Y6, A0A3Q7HBJ5, A0A517FNB9, A0A517FNC6, A0A5B8ND22, A0A9Y1LLN2, A0AAW1NEA3, A2QTE8, A2RRT9, A2Z212, A9QNE7, B0XZV0, B1NF18, B5BSX1, B6SSW8, B8AJL3, B8AV52, B8QHP1, B8QHP5, B9X287, F1SY66, G3XMC3, I1GQE7, K4CI52, L7T720, L7T8H2, O23051, O35728, O49858, O61387, O81077, O88833, P08682, P0DXH4, P14137

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	64
Likely pathogenic	20
Uncertain significance	324
Likely benign	127
Benign	45

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1067395	NM_207352.4(CYP4V2):c.988-1G>A	Pathogenic
1070288	NM_207352.4(CYP4V2):c.545del (p.Asn182fs)	Pathogenic
1070873	NC_000004.11:g.(?186997774)(187630981_?)del	Pathogenic
1075096	NM_207352.4(CYP4V2):c.1168C>T (p.Arg390Cys)	Pathogenic
1322187	NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer)	Pathogenic
1356082	NM_207352.4(CYP4V2):c.250dup (p.Tyr84fs)	Pathogenic
1379344	NM_207352.4(CYP4V2):c.1338del (p.Glu447fs)	Pathogenic
1401206	NM_207352.4(CYP4V2):c.1318C>T (p.Gln440Ter)	Pathogenic
1451669	NM_207352.4(CYP4V2):c.988-1G>C	Pathogenic
1456652	NM_207352.4(CYP4V2):c.550G>T (p.Glu184Ter)	Pathogenic
1458356	NM_207352.4(CYP4V2):c.1062dup (p.Val355fs)	Pathogenic
1458402	NM_207352.4(CYP4V2):c.280del (p.Val94fs)	Pathogenic
146635	GRCh38/hg38 4q35.1-35.2(chr4:186187749-189800953)x1	Pathogenic
149040	GRCh38/hg38 4q35.1-35.2(chr4:186037136-186271594)x1	Pathogenic
166978	NM_207352.4(CYP4V2):c.1393A>G (p.Arg465Gly)	Pathogenic
1697294	NM_207352.4(CYP4V2):c.801+1G>A	Pathogenic
1698830	NM_207352.4(CYP4V2):c.1219G>T (p.Glu407Ter)	Pathogenic
1973075	NM_207352.4(CYP4V2):c.582_583del (p.Ala196fs)	Pathogenic
1980534	NM_207352.4(CYP4V2):c.512del (p.Asn171fs)	Pathogenic
2097644	NM_207352.4(CYP4V2):c.231_234del (p.Ile77fs)	Pathogenic
209986	NM_207352.4(CYP4V2):c.1396A>G (p.Asn466Asp)	Pathogenic
2188	NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr)	Pathogenic
2190	NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser)	Pathogenic
2422396	NC_000004.11:g.(?187112968)(187201744_?)del	Pathogenic
2427778	NC_000004.11:g.(?187126334)(187131795_?)del	Pathogenic
2734687	NM_207352.4(CYP4V2):c.219T>A (p.Phe73Leu)	Pathogenic
2753312	NM_207352.4(CYP4V2):c.46del (p.Trp16fs)	Pathogenic
2794912	NM_207352.4(CYP4V2):c.1069del (p.His357fs)	Pathogenic
3248952	NM_207352.4(CYP4V2):c.629del (p.Gly210fs)	Pathogenic
3249709	NM_207352.4(CYP4V2):c.414-1G>T	Pathogenic

SpliceAI

2081 predictions. Top by Δscore:

Variant	Effect	Δscore
4:186192034:CGAGG:C	donor_loss	1.0000
4:186192036:AGG:A	donor_loss	1.0000
4:186192037:GGTAA:G	donor_loss	1.0000
4:186192038:GTAA:G	donor_loss	1.0000
4:186192039:T:A	donor_loss	1.0000
4:186194499:GAATT:G	acceptor_gain	1.0000
4:186194608:TGGAG:T	donor_loss	1.0000
4:186194611:AGGT:A	donor_loss	1.0000
4:186194612:GG:G	donor_loss	1.0000
4:186194613:GTG:G	donor_loss	1.0000
4:186194614:T:G	donor_loss	1.0000
4:186199082:GT:G	donor_gain	1.0000
4:186208864:GGGAA:G	acceptor_gain	1.0000
4:186209269:ATAG:A	donor_loss	1.0000
4:186209273:G:T	donor_loss	1.0000
4:186194498:A:AG	acceptor_gain	0.9900
4:186194499:G:GA	acceptor_gain	0.9900
4:186194499:GA:G	acceptor_gain	0.9900
4:186194499:GAA:G	acceptor_gain	0.9900
4:186194499:GAAT:G	acceptor_gain	0.9900
4:186194615:GGG:G	donor_loss	0.9900
4:186194616:GGT:G	donor_loss	0.9900
4:186196938:A:AG	acceptor_gain	0.9900
4:186196939:G:GG	acceptor_gain	0.9900
4:186198956:GAAT:G	acceptor_gain	0.9900
4:186199079:ACAGT:A	donor_gain	0.9900
4:186201154:CAGGT:C	acceptor_loss	0.9900
4:186208860:ATCAG:A	acceptor_gain	0.9900
4:186208996:GTGG:G	donor_gain	0.9900
4:186208998:GG:G	donor_gain	0.9900

AlphaMissense

3487 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:186196966:G:C	R147T	1.000
4:186196967:A:C	R147S	1.000
4:186196967:A:T	R147S	1.000
4:186209245:T:C	F460L	1.000
4:186209247:C:A	F460L	1.000
4:186209247:C:G	F460L	1.000
4:186196953:T:A	W143R	0.999
4:186196953:T:C	W143R	0.999
4:186196966:G:T	R147I	0.999
4:186209255:G:A	G463D	0.999
4:186209261:G:C	R465T	0.999
4:186209261:G:T	R465M	0.999
4:186209262:G:C	R465S	0.999
4:186209262:G:T	R465S	0.999
4:186209268:T:G	C467W	0.999
4:186210469:G:A	G469D	0.999
4:186196034:A:T	K120I	0.998
4:186196035:A:C	K120N	0.998
4:186196035:A:T	K120N	0.998
4:186196955:G:C	W143C	0.998
4:186196955:G:T	W143C	0.998
4:186196986:T:C	F154L	0.998
4:186196988:C:A	F154L	0.998
4:186196988:C:G	F154L	0.998
4:186197539:C:A	A204D	0.998
4:186205200:G:T	G330W	0.998
4:186205210:C:T	T333I	0.998
4:186208942:C:A	R390S	0.998
4:186208972:C:A	R400S	0.998
4:186209245:T:A	F460I	0.998

dbSNP variants (sampled 300 via entrez): RS1000040559 (4:186194510 G>A), RS10000459 (4:186203305 A>C,G,T), RS10001084 (4:186190668 C>A,G,T), RS1000125209 (4:186213457 G>T), RS1000127688 (4:186197511 G>T), RS1000143060 (4:186190699 C>T), RS1000157035 (4:186197845 A>C,G,T), RS1000177624 (4:186195455 A>G), RS1000221540 (4:186202589 C>G,T), RS1000497500 (4:186213254 T>C), RS1000636871 (4:186209340 C>A), RS1000689732 (4:186200739 C>T), RS10006933 (4:186197987 G>A), RS1000771902 (4:186203921 T>C), RS1000871931 (4:186207793 T>G)

Disease associations

OMIM: gene MIM:608614 | disease phenotypes: MIM:210370, MIM:268000, MIM:164210, MIM:303100, MIM:612416

GenCC curated gene-disease

Disease	Classification	Inheritance
Bietti crystalline corneoretinal dystrophy	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Bietti crystalline corneoretinal dystrophy	Definitive	AR

Mondo (9): Bietti crystalline corneoretinal dystrophy (MONDO:0008865), retinitis pigmentosa (MONDO:0019200), inherited retinal dystrophy (MONDO:0019118), optic atrophy (MONDO:0003608), corneal dystrophy (MONDO:0018102), craniofacial microsomia 1 (MONDO:0958175), choroideremia (MONDO:0010557), retinal disorder (MONDO:0005283), congenital factor XI deficiency (MONDO:0012897)

Orphanet (7): Bietti crystalline dystrophy (Orphanet:41751), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Corneal dystrophy (Orphanet:34533), Goldenhar syndrome (Orphanet:374), Choroideremia (Orphanet:180), Congenital factor XI deficiency (Orphanet:329)

HPO phenotypes

27 total (29 of 27 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000505	Visual impairment
HP:0000529	Progressive visual loss
HP:0000531	Corneal crystals
HP:0000533	Chorioretinal atrophy
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000580	Pigmentary retinopathy
HP:0000603	Central scotoma
HP:0000618	Blindness
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
HP:0000662	Nyctalopia
HP:0001129	Large central visual field defect
HP:0001133	Constriction of peripheral visual field
HP:0001141	Severely reduced visual acuity
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007722	Retinal pigment epithelial atrophy
HP:0007760	Crystalline corneal dystrophy
HP:0007814	Retinal pigment epithelial mottling
HP:0007880	Marginal corneal dystrophy
HP:0011003	High myopia
HP:0011505	Cystoid macular edema
HP:0030329	Retinal thinning on OCT
HP:0030491	Choriocapillaris atrophy
HP:0030528	Paracentral scotoma
HP:0031528	Subretinal deposits
HP:0000556	Retinal dystrophy
HP:0001131	Corneal dystrophy

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001639_20	Metabolite levels	4.000000e-12
GCST003793_1	L-arginine levels	2.000000e-22
GCST006904_5	Cerebral amyloid deposition (PET imaging)	2.000000e-06
GCST008309_4	Cardiac troponin-I levels	1.000000e-08
GCST012353_31	Serum metabolite concentrations in chronic kidney disease	5.000000e-11
GCST012523_4	Venous thromboembolism	3.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification
EFO:0006524	L-arginine measurement
EFO:0007707	cerebral amyloid deposition measurement
EFO:0010071	cardiac troponin I measurement

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D015794	Choroideremia	C11.270.142; C11.941.160.300; C16.320.290.142; C16.320.322.092
D003317	Corneal Dystrophies, Hereditary	C11.204.236; C11.270.162; C16.320.290.162
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
C535440	Bietti Crystalline Dystrophy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — CYP4 family

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects cotreatment	5
bisphenol A	increases expression, increases methylation	4
sodium arsenite	decreases expression, increases abundance	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases expression, affects expression	2
Cadmium Chloride	increases abundance, increases expression, decreases expression	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	increases expression	1
12-hydroxydodecanoic acid	decreases reaction, increases chemical synthesis	1
beta-methylcholine	affects expression	1
polyhexamethyleneguanidine	affects expression	1
fipronil	affects cotreatment, decreases expression	1
2-chloro-5-nitrobenzanilide	decreases reaction, increases chemical synthesis, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases 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
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	decreases methylation	1
Arsenic	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Biological Factors	increases expression	1
Cadmium	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 1 induced pluripotent stem cell, 1 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A7IZ	PUMCHi014-A	Induced pluripotent stem cell	Male
CVCL_E1J6	HyCyte ARPE-19 KO-hCYP4V2	Spontaneously immortalized cell line	Male

Clinical trials (associated diseases)

287 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
NCT06743646	PHASE3	RECRUITING	Efficacy and Safety of ZVS101e in Patients With Bietti ’s Crystalline Dystrophy
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
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
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT05279157	PHASE2	COMPLETED	Autologous Adipose-Derived Adult Stem Cell Implantation for Corneal Diseases (ADASCs-CT-CD)
NCT00063765	PHASE1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye