MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000173

UniProt Annotations

Entry Information

Gene Name	cytochrome P450, family 27, subfamily B, polypeptide 1
Protein Entry	CP27B_HUMAN
UniProt ID	O15528
Species	Human

Comments

Comment type	Description
Catalytic Activity	Calcidiol + NADPH + O(2) = calcitriol + NADP(+) + H(2)O.
Cofactor	Name=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250};
Disease	Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]: A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. {ECO:0000269\|PubMed:10320521, ECO:0000269\|PubMed:10566658, ECO:0000269\|PubMed:12050193, ECO:0000269\|PubMed:9486994, ECO:0000269\|PubMed:9837822}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.
Pathway	Hormone biosynthesis; cholecalciferol biosynthesis.
Similarity	Belongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular Location	Mitochondrion membrane.
Tissue Specificity	Kidney.
Web Resource	Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp27b1/";