Aliases for HSD3B7 Gene
- Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7 2 3 5
- Short Chain Dehydrogenase/Reductase Family 11E, Member 3 2 3
- Cholest-5-Ene-3-Beta,7-Alpha-Diol 3-Beta-Dehydrogenase 3 4
- 3-Beta-Hydroxy-Delta(5)-C27 Steroid Oxidoreductase 3 4
- 3 Beta-Hydroxysteroid Dehydrogenase Type VII 3 4
- C(27) 3-Beta-HSD 3 4
- 3-Beta-HSD VII 3 4
- 3 Beta-Hydroxy-Delta 5-C27-Steroid Oxidoreductase 3
External Ids for HSD3B7 Gene
Previous GeneCards Identifiers for HSD3B7 Gene
This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
GeneCards Summary for HSD3B7 Gene
HSD3B7 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7) is a Protein Coding gene. Diseases associated with HSD3B7 include Bile Acid Synthesis Defect, Congenital, 1 and Congenital Bile Acid Synthesis Defect. Among its related pathways are Synthesis of bile acids and bile salts and Metabolism. GO annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is HSD3B2.
UniProtKB/Swiss-Prot for HSD3B7 Gene
The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells.