3-beta-hydroxysteroid dehydrogenase 7; 3-beta-HSD VII; 3-beta-hydroxy-delta(5)-C27 steroid oxidoreductase; C(27)3beta-HSD (HSD3B7)

Function

• plays a role in biosynthesis of hormonal steroids
• involved in bile acid synthesis

Compartment

endoplasmic reticulum; membrane-bound

Pathology

• defects in HSD3B7 are associated with familial intrahepatic cholestasis 4

More general terms

• 3-beta hydroxysteroid dehydrogenase
• membrane protein

Additional terms

• familial intrahepatic cholestasis 4 (PFIC4)

Database

• OMIM: https://mirror.omim.org/entry/607764
• OMIM: https://mirror.omim.org/entry/607765
• UniProt: http://www.uniprot.org/uniprot/Q9H2F3.html