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MT000172

UniProt Annotations

Entry Information

Gene Name	cytochrome P450, family 27, subfamily A, polypeptide 1
Protein Entry	CP27A_HUMAN
UniProt ID	Q02318
Species	Human

Comments

Comment type	Description
Catalytic Activity	5-beta-cholestane-3-alpha,7-alpha,12-alpha- triol + 3 NADPH + 3 O(2) = (25R)-3-alpha,7-alpha,12-alpha- trihydroxy-5-beta-cholestan-26-oate + 3 NADP(+) + 4 H(2)O.
Cofactor	Name=heme; Xref=ChEBI:CHEBI:30413;
Disease	Cerebrotendinous xanthomatosis (CTX) [MIM:213700]: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. {ECO:0000269\|PubMed:12000359, ECO:0000269\|PubMed:2019602, ECO:0000269\|PubMed:7915755, ECO:0000269\|PubMed:9186905, ECO:0000269\|PubMed:9790667}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta- cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3- 25-hydroxylase activity.
Pathway	Hormone biosynthesis; cholecalciferol biosynthesis.
Similarity	Belongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular Location	Mitochondrion membrane.