Aliases for CYP7B1 Gene
- Cytochrome P450 Family 7 Subfamily B Member 1 2 3 5
- Cytochrome P450, Subfamily VIIB (Oxysterol 7 Alpha-Hydroxylase), Polypeptide 1 2 3
- 25/26-Hydroxycholesterol 7-Alpha-Hydroxylase 3 4
- 24-Hydroxycholesterol 7-Alpha-Hydroxylase 3 4
- 3-Hydroxysteroid 7-Alpha Hydroxylase 3 4
- Oxysterol 7-Alpha-Hydroxylase 3 4
- Cytochrome P450 7B1 3 4
External Ids for CYP7B1 Gene
Previous HGNC Symbols for CYP7B1 Gene
Previous GeneCards Identifiers for CYP7B1 Gene
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
GeneCards Summary for CYP7B1 Gene
CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP7B1 include Spastic Paraplegia 5A, Autosomal Recessive and Bile Acid Synthesis Defect, Congenital, 3. Among its related pathways are Cytochrome P450 - arranged by substrate type and Synthesis of bile acids and bile salts. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP7A1.
UniProtKB/Swiss-Prot Summary for CYP7B1 Gene
A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (PubMed:10588945, PubMed:24491228). 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) (PubMed:10588945, PubMed:24491228). Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position (PubMed:10588945, PubMed:24491228). Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3-hydroxy steroid 7-alpha hydroxylase (PubMed:24491228). 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 (PubMed:24491228). Metabolizes androstanoids toward 6- or 7-alpha hydroxy derivatives (PubMed:24491228).