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- Table of Contents
Facts about 3 beta-hydroxysteroid dehydrogenase type 7.
Doesn't metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870).
Human | |
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Gene Name: | HSD3B7 |
Uniprot: | Q9H2F3 |
Entrez: | 80270 |
Belongs to: |
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3-beta-HSD family |
3 beta-hydroxy-delta 5-C27-steroid oxidoreductase; 3 beta-hydroxysteroid dehydrogenase type 7; 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 7-alpha-diol 3-beta-dehydrogenase; C(27) 3-beta-HSD; C(27)-3BETA-HSD; Cholest-5-ene-3-beta; EC 1.1.1.-; EC 1.1.1.181; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7,3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; PFIC4; SDR11E3; short chain dehydrogenase/reductase family 11E, member 3
Mass (kDA):
41.016 kDA
Human | |
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Location: | 16p11.2 |
Sequence: | 16; NC_000016.10 (30985189..30989152) |
Endoplasmic reticulum membrane; Multi-pass membrane protein.
PMID: 11067870 by Schwarz M., et al. The bile acid synthetic gene 3beta-hydroxy-delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis.
PMID: 12679481 by Cheng J.B., et al. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.