DISEASES

Disease-gene associations mined from literature

Literature associating CYP2U1 and Charcot-Marie-Tooth disease type 2A2A

CYP2U1 [ENSP00000333212]

Cytochrome P450 2U1; A cytochrome P450 monooxygenase involved in the metabolism of arachidonic acid and its conjugates . Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH- ferrihemoprotein reductase) . Acts as an omega and omega-1 hydroxylase for arachidonic acid and possibly for other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes . May downregulate the biological activities of N-arachidonoyl-serotonin, an endocannabinoid that has anti-nociceptive effects through inhibition of fatty acid amide hydrolase FAAH, TRPV1 receptor and T-type calcium channels. Catalyzes C-2 oxidation of the indole ring of N-arachidonoyl-serotonin forming a less active product 2-oxo-N-arachidonoyl-serotonin .

Synonyms:  CYP2U1,  CYP2U1p,  hCYP2U1,  E9PGH5,  Q7Z449 ...

Linkouts:  STRING  Pharos  UniProt  OMIM