cytochrome P450 27A1; sterol 26-hydroxylase; sterol 27-hydroxylase; vitamin D3 25-hydroxylase; 5-beta cholestane-3-alpha,7-alpha,12-alpha-triol 27 hydroxylase

Function

• catalyzes the 1st step in oxidation of sterol side chain
• 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha, 12-alpha-triol
• vitamin D3 25-hydroxylase

Cofactor: NADP

Structure

belongs to the cytochrome P450 family

Compartment

mitochondria

Pathology

• defects in CYP27A1 are the cause of cerebrotendinous xanthomatosis

More general terms

• cytochrome P450
• steroid hydroxylase

Additional terms

• cerebrotendinous xanthomatosis

Database

• OMIM: https://mirror.omim.org/entry/606530
• OMIM: https://mirror.omim.org/entry/213700
• UniProt: http://www.uniprot.org/uniprot/Q02318.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1593
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1593