DISEASES

Disease-gene associations mined from literature

Literature on CYP46A1

CYP46A1 [ENSP00000261835]

Cholesterol 24-hydroxylase; P450 monooxygenase that plays a major role in cholesterol homeostasis in the brain. Primarily catalyzes the hydroxylation (with S stereochemistry) at C-24 of cholesterol side chain, triggering cholesterol diffusion out of neurons and its further degradation . By promoting constant cholesterol elimination in neurons, may activate the mevalonate pathway and coordinate the synthesis of new cholesterol and nonsterol isoprenoids involved in synaptic activity and learning (By similarity). Further hydroxylates cholesterol derivatives and hormone steroids on both the ring and side chain of these molecules, converting them into active oxysterols involved in lipid signaling and biosynthesis . Acts as an epoxidase converting cholesta-5,24-dien-3beta-ol/desmosterol into (24S),25-epoxycholesterol, an abundant lipid ligand of nuclear NR1H2 and NR1H3 receptors shown to promote neurogenesis in developing brain . May also catalyze the oxidative metabolism of xenobiotics, such as clotrimazole . ECO:0000269|PubMed:12077124, ECO:0000269|PubMed:14640697, ECO:0000269|PubMed:18621681, ECO:0000269|PubMed:20667828,

Synonyms:  CYP46A1,  CYP46A1p,  hCYP46A1,  G3V366,  H0YJI0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM