background:
This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].
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.
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein.
Tissue Specificity:
High levels in liver and lung, moderate levels in spleen, brain, heart, kidney, jejunum and testis. Up-regulated in 3Y1 cells upon growth arrest.
DISEASE:
Defects in HSD3B7 are the cause of congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]; also known as neonatal progressive intrahepatic cholestasis. CBAS1 is due to a primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis and cirrhosis.
Similarity:
Belongs to the 3-beta-HSD family.
Database links:
Entrez Gene: 80270 Human
Entrez Gene: 101502 Mouse
Omim: 607764 Human
SwissProt: Q9H2F3 Human
SwissProt: Q9EQC1 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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