Biology:Cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase
| cholest-5-ene-3β,7α-diol 3β-dehydrogenase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| EC number | 1.1.1.181 | ||||||||
| CAS number | 56626-16-5 | ||||||||
| Databases | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
| |||||||||
| hydroxy-Δ-5-steroid dehydrogenase, 3β- and steroid Δ-isomerase 7 | |
|---|---|
| Identifiers | |
| Symbol | HSD3B7 |
| NCBI gene | 80270 |
| HGNC | 18324 |
| OMIM | 607764 |
| RefSeq | NM_025193 |
| UniProt | Q9H2F3 |
| Other data | |
| EC number | 1.1.1.181 |
| Locus | Chr. 16 p11.2 |
In enzymology, a cholest-5-ene-3β,7α-diol 3β-dehydrogenase (EC 1.1.1.181) is an enzyme that catalyzes the chemical reaction[1]
- cholest-5-ene-3β,7α-diol + NAD+ [math]\displaystyle{ \rightleftharpoons }[/math] 7α-hydroxycholest-4-en-3-one + NADH + H+
Thus, the two substrates of this enzyme are cholest-5-ene-3β,7α-diol and NAD+, whereas its 3 products are 7α-hydroxycholest-4-en-3-one, NADH, and H+.
The systematic name of this enzyme class is cholest-5-ene-3β,7α-diol:NAD+ 3-oxidoreductase. This enzyme is also called 3β-hydroxy-Δ5-C27-steroid oxidoreductase. The human version of this enzyme is known as hydroxy-Δ-5-steroid dehydrogenase, 3 β- and steroid delta-isomerase 7 or HSD3B7 which is encoded by the HSD3B7 gene.[2][3]
Function
This enzyme belongs to the family of oxidoreductases, specifically those acting on the CH-OH group of donor with NAD+ or NADP+ as acceptor. This enzyme is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. This enzyme is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates.[4]
Clinical significance
Mutations in the HSD3B7 gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease.[4]
See also
- 3-beta-HSD
References
- ↑ Wikvall K (April 1981). "Purification and properties of a 3 β-hydroxy-delta 5-C27-steroid oxidoreductase from rabbit liver microsomes". J. Biol. Chem. 256 (7): 3376–80. doi:10.1016/S0021-9258(19)69618-3. PMID 6937465.
- ↑ "The bile acid synthetic gene 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis". J. Clin. Invest. 106 (9): 1175–84. November 2000. doi:10.1172/JCI10902. PMID 11067870.
- ↑ "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem. Biol. Interact. 178 (1–3): 94–8. March 2009. doi:10.1016/j.cbi.2008.10.040. PMID 19027726.
- ↑ 4.0 4.1 "Entrez Gene: HSD3B7". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80270.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 |  |
