HSD3B7
Function
The 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 (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells (By similarity).
Involvement in disease
Congenital bile acid synthesis defect 1
CBAS1
A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Lipid metabolism; steroid biosynthesis.
Sequence Similarities
Belongs to the 3-beta-HSD family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
3 beta-hydroxysteroid dehydrogenase type 7, 3 beta-hydroxysteroid dehydrogenase type VII, 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase, 3-beta-HSD VII, C(27) 3-beta-HSD, HSD3B7