Cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase

cholest-5-ene-3β,7α-diol 3β-dehydrogenase
Identifiers
EC no.1.1.1.181
CAS no.56626-16-5
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Search
PMCarticles
PubMedarticles
NCBIproteins
hydroxy-Δ-5-steroid dehydrogenase, 3β- and steroid Δ-isomerase 7
Identifiers
SymbolHSD3B7
NCBI gene80270
HGNC18324
OMIM607764
RefSeqNM_025193
UniProtQ9H2F3
Other data
EC number1.1.1.181
LocusChr. 16 p11.2
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StructuresSwiss-model
DomainsInterPro

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+ 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

References

  1. ^ 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.
  2. ^ 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.
  3. ^ 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.
  4. ^ a b "Entrez Gene: HSD3B7".

This article incorporates text from the United States National Library of Medicine, which is in the public domain.