CYP46A1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0042448Biological processprogesterone metabolic process
GO_0006707Biological processcholesterol catabolic process
GO_0006699Biological processbile acid biosynthetic process
GO_0006805Biological processxenobiotic metabolic process
GO_1903044Biological processprotein localization to membrane raft
GO_1900271Biological processregulation of long-term synaptic potentiation
GO_0016125Biological processsterol metabolic process
GO_0007399Biological processnervous system development
GO_0098793Cellular componentpresynapse
GO_0005783Cellular componentendoplasmic reticulum
GO_0098794Cellular componentpostsynapse
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0030425Cellular componentdendrite
GO_0062184Molecular functiontestosterone 16-beta-hydroxylase activity
GO_0033781Molecular functioncholesterol 24-hydroxylase activity
GO_0005506Molecular functioniron ion binding
GO_0008395Molecular functionsteroid hydroxylase activity
GO_0020037Molecular functionheme binding

IV. Literature review

[source]
Gene nameCYP46A1
Protein nameCholesterol 24-hydroxylase (CH24H) (EC 1.14.14.25) (Cholesterol 24-monooxygenase) (Cholesterol 24S-hydroxylase) (Cytochrome P450 46A1)
Cytochrome P450 family 46 subfamily A member 1
SynonymsCYP46
DescriptionFUNCTION: 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 . .

AccessionsENST00000261835.8 [Q9Y6A2-1]
ENST00000556313.1
H0YJU5
G3V366
H0YJI0
ENST00000554917.5
ENST00000554611.5
Q9Y6A2
ENST00000380228.6 [Q9Y6A2-2]