CYP4V2

Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.^[5][6]

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

Mutations are associated with Bietti's crystalline dystrophy and retinitis pigmentosas.^[7][8]