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MT000171

UniProt Annotations

Entry Information

Gene Name	cytochrome P450, family 24, subfamily A, polypeptide 1
Protein Entry	CP24A_HUMAN
UniProt ID	Q07973
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q07973-1; Sequence=Displayed; Name=2; IsoId=Q07973-2; Sequence=VSP_043101; Note=No experimental confirmation available.; Name=3; Synonyms=CYP24-SV; IsoId=Q07973-3; Sequence=VSP_053367, VSP_053368; Note=Specifically expressed in macrophages. Lacks the transit peptide. May be a dominant negative-acting isoform possibly by sequestering vitamin D metabolites.;
Catalytic Activity	Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)O.
Catalytic Activity	Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)O.
Cofactor	Name=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250};
Disease	Hypercalcemia infantile (HCAI) [MIM:143880]: A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. {ECO:0000269\|PubMed:21675912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25- hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23- hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product.
Similarity	Belongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular Location	Mitochondrion.