// Workers AI · dad joke modeWhat did Cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase say? "I'm sterol-ing the show
(Redirected from HSD3B7)
| cholest-5-ene-3β,7α-diol 3β-dehydrogenase | |||||||||
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| Identifiers | |||||||||
| EC no. | 1.1.1.181 | ||||||||
| CAS no. | 56626-16-5 | ||||||||
| Databases | |||||||||
| BRENDA | enzyme data | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | enzyme entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| Rhea | reactions | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
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| HSD17B6 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | HSD17B6, HSE, RODH, SDR9C6, hydroxysteroid (17-beta) dehydrogenase 6, hydroxysteroid 17-beta dehydrogenase 6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606623; MGI: 1351670; GeneCards: HSD17B6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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In enzymology, a cholest-5-ene-3β,7α-diol 3β-dehydrogenase (EC 1.1.1.181) is an enzyme that catalyzes several chemical reactions of steroids.[5]
The primary reaction is to convert 7α-hydroxycholesterol to 7α-hydroxycholest-4-en-3-one:[6]
The two substrates are 7α-hydroxycholesterol and oxidised nicotinamide adenine dinucleotide (NAD+). The products are 7α-hydroxycholest-4-en-3-one, reduced NADH, and a proton.[6]
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.[7][8]
Function
[edit]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 hydroxylated sterol substrates.[9]
Clinical significance
[edit]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.[9]
See also
[edit]References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000025423 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025396 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ 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.
- 1 2 Enzyme 1.1.1.181 at KEGG Pathway Database.
- ↑ Schwarz M, Wright AC, Davis DL, Nazer H, Björkhem I, Russell DW (November 2000). "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. doi:10.1172/JCI10902. PMC 301421. PMID 11067870.
- ↑ Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jörnvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (March 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem. Biol. Interact. 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
- 1 2 "Entrez Gene: HSD3B7".
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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