|Gene:||Hsd3b7||Accession Number: G-10909 (MetaCyc)|
Species: Mus musculus
The subunit structure of this enzyme has not been determined.
The Hsd3b7 gene cloned from mouse liver was used to identify the corresponding human gene. Mutations in the human gene encoding this enzyme can lead to neonatal liver failure [Schwarz00b] and reviewed in [Russell03].
Predicted protein sequences from human, mouse and rat showed 86-94% sequence identity [Schwarz00b].
The tissue distribution of mRNA for mouse and rat suggested liver-specific expression. However, the human mRNA was present in many tissues [Schwarz00b].
Locations: endoplasmic reticulum membrane
|Map Position: [134,944,123 -> 134,947,316]|
Unification Links: Entrez-gene:101502
|Cellular Component:||GO:0005789 - endoplasmic reticulum membrane [Schwarz00b]|
Enzymatic reaction of: cholest-5-ene-3β,7α-diol 3β-dehydrogenase (3β-hydroxy-Δ5-C27 steroid oxidoreductase)
Synonyms: cholest-5-ene-3β,7α-diol:NAD+ 3-oxidoreductase
EC Number: 126.96.36.199
The reaction direction shown, that is, A + B ↔ C + D versus C + D ↔ A + B, is in accordance with the Enzyme Commission system.
The reaction is favored in the direction shown.
In Pathways: bile acid biosynthesis, neutral pathway
The recombinant mouse enzyme was transfected into HEK 293 cells and assayed for C27-3β-hydroxy-steroid dehydrogenase activity. It was only active against 7α-hydroxylated sterol substrates. Due to lack of substrate availability, the 7α-hydroxylated forms of 24-, 25- and 27-hydroxycholesterol were used as substrates [Schwarz00b].
Furster96: Furster C, Zhang J, Toll A (1996). "Purification of a 3beta-hydroxy-delta5-C27-steroid dehydrogenase from pig liver microsomes active in major and alternative pathways of bile acid biosynthesis." J Biol Chem 271(34);20903-7. PMID: 8702847
Schwarz00b: Schwarz M, Wright AC, Davis DL, Nazer H, Bjorkhem I, Russell DW (2000). "The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis." J Clin Invest 106(9);1175-84. PMID: 11067870
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