CYP4V2 explained

Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.^{[1] [2]}

Mutations are associated with Bietti's crystalline dystrophy and retinitis pigmentosas.^{[3] [4]}

Further reading

• Jiao X, Munier FL, Iwata F . Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. . Am. J. Hum. Genet. . 67 . 5 . 1309–13 . 2000 . 11001583 . 10.1016/S0002-9297(07)62960-7 . 1288572 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Wada Y, Itabashi T, Sato H . Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. . Am. J. Ophthalmol. . 139 . 5 . 894–9 . 2005 . 15860296 . 10.1016/j.ajo.2004.11.065 . etal.
• Gekka T, Hayashi T, Takeuchi T . CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy. . Ophthalmic Res. . 37 . 5 . 262–9 . 2005 . 16088246 . 10.1159/000087214 . 24445691 . etal.
• Shan M, Dong B, Zhao X . Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. . Mol. Vis. . 11 . 738–43 . 2006 . 16179904 . etal.
• Lee KY, Koh AH, Aung T . Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. . Invest. Ophthalmol. Vis. Sci. . 46 . 10 . 3812–6 . 2005 . 16186368 . 10.1167/iovs.05-0378 . etal.
• Jin ZB, Ito S, Saito Y . Clinical and molecular findings in three Japanese patients with crystalline retinopathy. . Jpn. J. Ophthalmol. . 50 . 5 . 426–31 . 2006 . 17013694 . 10.1007/s10384-006-0350-0 . 189767362 . etal.
• Book: Nakamura M, Lin J, Nishiguchi K . Retinal Degenerative Diseases . Bietti Crystalline Corneoretinal Dystrophy Associated with CYP4V2 Gene Mutations . 572 . 49–53 . 17249554 . 10.1007/0-387-32442-9_8 . etal . Advances in Experimental Medicine and Biology . 2006 . 978-0-387-28464-4 . registration .
• Lai TY, Ng TK, Tam PO . Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations. . Invest. Ophthalmol. Vis. Sci. . 48 . 11 . 5212–20 . 2007 . 17962476 . 10.1167/iovs.07-0660 . etal.

Notes and References

1. 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 . Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 . Am J Hum Genet . 74 . 5 . 817–26 . Apr 2004 . 15042513 . 1181977 . 10.1086/383228 .
2. Web site: Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2.
3. 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. Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa.. PLOS ONE. 2012. 7. 5. e33673. 22693542. 10.1371/journal.pone.0033673. 3365069. 2012PLoSO...733673W . free .
4. Adam MP, Mirzaa GM, Pagon RA, Wallace SE, ((Bean LJH)), Gripp KW, Amemiya A, Fahim AT, Daiger SP, Weleber RG . Nonsyndromic Retinitis Pigmentosa Overview. 1993. 20301590 .