| CYP4V2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CYP4V2, BCD, CYP4AH1, cytochrome P450 family 4 subfamily V member 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608614 MGI: 2142763 HomoloGene: 133054 GeneCards: CYP4V2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| EC number | 1.14.14.79 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.[5][6]
Mutations are associated with Bietti's crystalline dystrophy and retinitis pigmentosas.[7][8]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000145476 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000079057 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF (Apr 2004). "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2". Am J Hum Genet. 74 (5): 817–26. doi:10.1086/383228. PMC 1181977. PMID 15042513.
- ↑ "Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2".
- ↑ Wang, Y; Guo, L; Cai, SP; Dai, M; Yang, Q; Yu, W; Yan, N; Zhou, X; Fu, J; Guo, X; Han, P; Wang, J; Liu, X (2012). "Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa". PLOS ONE. 7 (5): e33673. Bibcode:2012PLoSO...733673W. doi:10.1371/journal.pone.0033673. PMC 3365069. PMID 22693542.
- ↑ Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Fahim AT, Daiger SP, Weleber RG (1993). "Nonsyndromic Retinitis Pigmentosa Overview". PMID 20301590.
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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. Bibcode:2002PNAS...9916899M. 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. S2CID 24445691.
- 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. S2CID 189767362.
- Nakamura M, Lin J, Nishiguchi K, et al. (2006). "Bietti Crystalline Corneoretinal Dystrophy Associated with CYP4V2 Gene Mutations". Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology. Vol. 572. pp. 49–53. doi:10.1007/0-387-32442-9_8. ISBN 978-0-387-28464-4. 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.
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