LMPD Database

LMP000490

UniProt Annotations

Entry Information
Gene Namecytochrome P450, family 27, subfamily B, polypeptide 1
Protein EntryCP27B_HUMAN
UniProt IDO15528
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityCalcidiol + NADPH + O(2) = calcitriol + NADP(+) + H(2)O.
CofactorName=heme; Xref=ChEBI
DiseaseRickets vitamin D-dependent 1A (VDDR1A) [MIM
FunctionCatalyzes 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.
PathwayHormone biosynthesis; cholecalciferol biosynthesis.
SimilarityBelongs to the cytochrome P450 family.
Subcellular LocationMitochondrion membrane.
Tissue SpecificityKidney.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp27b1/";