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MGP005982

UniProt Annotations

Entry Information
Gene Namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Protein Entry3BHS7_HUMAN
UniProt IDQ9H2F3
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H2F3-1; Sequence=Displayed; Name=2; IsoId=Q9H2F3-2; Sequence=VSP_042658; Note=No experimental confirmation available.;
Catalytic Activity3-beta-hydroxy-Delta(5)-steroid + NAD(+) = 3- oxo-Delta(5)-steroid + NADH.
Catalytic ActivityCholest-5-ene-3-beta,7-alpha-diol + NAD(+) = 7-alpha-hydroxycholest-4-en-3-one + NADH.
DiseaseCongenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]: A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis. {ECO:0000269|PubMed:11067870, ECO:0000269|PubMed:12679481}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe 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.
PathwayLipid metabolism; steroid biosynthesis.
SimilarityBelongs to the 3-beta-HSD family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane; Multi-pass membrane protein.
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