CYP39A1

Description

The CYP39A1 (cytochrome P450 family 39 subfamily A member 1) is a protein-coding gene located on chromosome 6.

CYP39A1 (cytochrome P450, family 39, subfamily A, polypeptide 1), also known as oxysterol 7-α-hydroxylase 2, is a protein encoded by the CYP39A1 gene. It belongs to the cytochrome P450 superfamily of enzymes, which are monooxygenases catalyzing reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids. This endoplasmic reticulum protein plays a role in converting cholesterol to bile acids. Its substrates include the oxysterols 24-hydroxycholesterol, 25-hydroxycholesterol, and 27-hydroxycholesterol.

CYP39A1, also known as 24-hydroxycholesterol 7-alpha-hydroxylase, is a cytochrome P450 monooxygenase crucial for neural cholesterol clearance through bile acid synthesis. It catalyzes the 7-alpha hydroxylation of (24S)-hydroxycholesterol, a neural oxysterol that is metabolized into bile acids in the liver. CYP39A1 utilizes molecular oxygen, inserting one oxygen atom into a substrate and reducing the second into water, with two electrons supplied by NADPH via cytochrome P450 reductase.

CYP39A1 is also known as -.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing