CYP4V2

VALUE_ERROR (nil)
Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.

Mutations are associated with Bietti's crystalline dystrophy and retinitis pigmentosas.

Further reading

• Jiao X, Munier FL, Iwata F, et al. (2000). "Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35". Am. J. Hum. Genet. 67 (5): 1309–13. doi:10.1016/S0002-9297(07)62960-7. PMC 1288572. PMID 11001583.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Wada Y, Itabashi T, Sato H, et al. (2005). "Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy". Am. J. Ophthalmol. 139 (5): 894–9. doi:10.1016/j.ajo.2004.11.065. PMID 15860296.
• Gekka T, Hayashi T, Takeuchi T, et al. (2005). "CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy". Ophthalmic Res. 37 (5): 262–9. doi:10.1159/000087214. PMID 16088246.
• Shan M, Dong B, Zhao X, et al. (2006). "Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy". Mol. Vis. 11: 738–43. PMID 16179904.
• Lee KY, Koh AH, Aung T, et al. (2005). "Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations". Invest. Ophthalmol. Vis. Sci. 46 (10): 3812–6. doi:10.1167/iovs.05-0378. PMID 16186368.
• Jin ZB, Ito S, Saito Y, et al. (2006). "Clinical and molecular findings in three Japanese patients with crystalline retinopathy". Jpn. J. Ophthalmol. 50 (5): 426–31. doi:10.1007/s10384-006-0350-0. PMID 17013694.
• Nakamura M, Lin J, Nishiguchi K, et al. (2007). "Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations". Adv. Exp. Med. Biol. 572: 49–53. doi:10.1007/0-387-32442-9_8. PMID 17249554.
• Lai TY, Ng TK, Tam PO, et al. (2007). "Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations". Invest. Ophthalmol. Vis. Sci. 48 (11): 5212–20. doi:10.1167/iovs.07-0660. PMID 17962476.