CYP7A1

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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]

Description

Cytochrome P450 family 7 subfamily A member 1

Tissue specificity

Tissue enriched (liver)

Predicted location

Intracellular

Protein family

Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

8 (58490178 - 58500163)

Ensembl ID

ENSG00000167910  (ver. 103.38)

Orthologs

Mouse Cyp7a1: ENSMUSG00000028240

UniProt

P22680

neXtProt

NX_P22680

Human splice variants
Mouse splice variants

Protein structure