This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008].
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Protein Aliases: Cy4v2; Cyp4v3; Cytochrome P450 4V2; cytochrome P450, family 4, subfamily V, polypeptide 2; Docosahexaenoic acid omega-hydroxylase CYP4V2; Long-chain fatty acid omega-monooxygenase
Gene Aliases: BCD; CYP4AH1; CYP4V2
UniProt ID: (Human) Q6ZWL3
Entrez Gene ID: (Human) 285440
Molecular Function: oxygenase