3 beta-hydroxysteroid dehydrogenase type 7 (HSD3B7), Recombinant Protein

For Research Use Only. Not for use in diagnostic procedures.

Cell Free Expression

Liquid containing glycerol

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of HSD3B7 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Transmembrane Protein

This is a recombinant transmembrane protein expressed in a cell-free expression system.

21,322 Da

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

3 beta-hydroxysteroid dehydrogenase type 7

3 beta-hydroxysteroid dehydrogenase type 7

3-beta-HSD VII; C(27) 3-beta-HSD  [Similar Products]

3BHS7_HUMAN

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]

HSD3B7: 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. Defects in HSD3B7 are the cause of congenital bile acid synthesis defect type 1 (CBAS1); 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. Belongs to the 3-beta-HSD family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 1.1.1.181; Oxidoreductase; Membrane protein, integral; Lipid Metabolism - primary bile acid biosynthesis; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: 3-beta-hydroxy-delta5-steroid dehydrogenase activity; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity; protein binding

Biological Process: bile acid biosynthetic process

Disease: Bile Acid Synthesis Defect, Congenital, 1

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