The cyp27a1.3 protein is a mitochondrial cytochrome p450 monooxygenase localized to the inner mitochondrial membrane. It functions in cholesterol metabolism, catalyzing the first step in the acidic pat...[+]

The cyp27a1.3 protein is a mitochondrial cytochrome p450 monooxygenase localized to the inner mitochondrial membrane. It functions in cholesterol metabolism, catalyzing the first step in the acidic pathway of bile acid biosynthesis through 27-hydroxylation of cholesterol and other sterol intermediates. This enzyme also participates in vitamin d3 metabolism by hydroxylating calcidiol to form calcitriol. Expression is detected in the liver, kidney, intestine, and brain. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD