사이토크롬 P450 4V2 는 인간에서 CYP4V2 유전자 에 의해 암호화된 단백질 이다.[5] [6]
돌연변이는 비에티의 결정체 근위축증 과 망막염 색소증 과 관련이 있다.[7]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000145476 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000079057 - 앙상블 , 2017년 5월^ "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 . 추가 읽기 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 . 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. (2007). Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations Adv. Exp. Med. Biol . 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 .
CYP1 CYP2 CYP3(CYP3A ) CYP4 CYP5-20 CYP21-49 CYP51-69 CYP71-99 CYP71 (C1 , C2 , C3 , C4 , Z6 , AJ4 , AV1 , BA1 )CYP72A1 CYP73A1 CYP74 D1 )CYP75 (A1 , B1 )CYP76 (B6 , M7 )CYP79 (A1 , A2 , B1 , B2 , B3 , D1 , D3 , D4 )CYP80 (A1 , B1 , G2 )CYP81 (E1 , E3 , E7 , E9 )CYP88D6 CYP90C1 CYP93E1 CYP97C1 CYP99A3 CYP101-281 CYP301-499 CYP501-699 CYP701-999
