DISEASES

Disease-gene associations mined from literature

Literature associating CYP7B1 and xanthomatosis

CYP7B1 [ENSP00000310721]

Cytochrome P450 7B1; A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids . 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) . Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position . Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3- hydroxy steroid 7-alpha hydroxylase . Hydroxylates oxysterols, including 25-hydroxycholesterol and (25R)-cholest-5-ene- 3beta,26-diol toward 7-alpha hydroxy derivatives, which may be transported to the liver and converted to bile acids (PubMed:9802883, PubMed:10588945). Via its product 7-alpha,25-dihydroxycholesterol, a ligand for the chemotactic G protein-coupled receptor GPR183/EBI2, regulates B cell migration in germinal centers of lymphoid organs, thus guiding efficient maturation of plasma B cells and overall antigen- specific humoral immune response (By similarity). 7-alpha hydroxylates neurosteroids, including 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone) and pregnenolone, both involved in hippocampus-associated memory and learning . Metabolizes androstanoids toward 6- or 7-alpha hydroxy derivatives . ECO:0000269|PubMed:10588945, ECO:0000269|PubMed:24491228,

Synonyms:  CYP7B1,  CYP7B1p,  hCYP7B1,  O75881,  O75881p ...

Linkouts:  STRING  Pharos  UniProt  OMIM