CYP4V2

CYP4V2
Identifiers
Aliases	CYP4V2 , BCD, CYP4AH1, cytochrome P450 family 4 subfamily V member 2
External IDs	OMIM: 608614; MGI: 2142763; HomoloGene: 133054; GeneCards: CYP4V2; OMA:CYP4V2 - orthologs
EC number	1.14.14.79
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4q35.1-q35.2 Start 186,191,567 bp [1] End 186,213,463 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 B1.1 Start 45,757,981 bp [2] End 45,786,253 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum liver pancreatic epithelial cell right lobe of liver jejunal mucosa retinal pigment epithelium cardiac muscle tissue of right atrium islet of Langerhans gallbladder right adrenal cortex Top expressed in left lobe of liver jejunum intestinal villus epithelium of lens Ileal epithelium duodenum Paneth cell olfactory epithelium vestibular membrane of cochlear duct sciatic nerve More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding iron ion binding oxidoreductase activity heme binding oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen monooxygenase activity Cellular component integral component of membrane endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process response to stimulus sterol metabolic process fatty acid omega-oxidation visual perception retinoid metabolic process lipid metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 285440 102294 Ensembl ENSG00000145476 ENSMUSG00000079057 UniProt Q6ZWL3 Q9DBW0 RefSeq (mRNA) NM_207352 NM_133969 RefSeq (protein) NP_997235 NP_598730 Location (UCSC) Chr 4: 186.19 – 186.21 Mb Chr 8: 45.76 – 45.79 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000145476 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000079057 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2".
7. 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.
8. 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.{{cite journal}}: Cite journal requires |journal= (help)

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.