CYP27A1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

Description

Cytochrome P450 family 27 subfamily A member 1

Tissue specificity

Tissue enriched (liver)

Subcell location

Mitochondria, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (218781749 - 218815293)

Ensembl ID

ENSG00000135929  (ver. 103.38)

Orthologs

Mouse Cyp27a1: ENSMUSG00000026170

UniProt

Q02318

neXtProt

NX_Q02318

Human splice variants
Mouse splice variants

Protein structure