Human hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ELISA Kit | HSD3B7 elisa kit

Human 3 beta-hydroxysteroid dehydrogenase type 7, HSD3B7 ELISA Kit

Cat. Num. AAA9334768

• Gene Names: HSD3B7; CBAS1; PFIC4; SDR11E3
• Reactivity: Human
• Synonyms: hydroxy-delta-5-steroid dehydrogenase; 3 beta- and steroid delta-isomerase 7; Human 3 beta-hydroxysteroid dehydrogenase type 7; HSD3B7 ELISA Kit; Human 3 beta-hydroxysteroid dehydrogenase type 7 (HSD3B7) ELISA kit; PFIC4; SDR11E3; 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase; 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; C (27) -3BETA-HSD; short chain dehydrogenase/reductase family 11E; member 3; HSD3B7 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 218563684
• NCBI GeneID: 80270
• NCBI Accession #: NP_001136249.1
• NCBI GenBank Nucleotide #: NM_001142777.1
• UniProt Accession #: Q9H2F3; Q96M28; Q9BSN9
• Molecular Weight: 41,016 Da
• NCBI Official Full Name: 3 beta-hydroxysteroid dehydrogenase type 7 isoform b
• NCBI Official Synonym Full Names: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
• NCBI Official Symbol: HSD3B7
• NCBI Official Synonym Symbols: CBAS1; PFIC4; SDR11E3
• NCBI Protein Information: 3 beta-hydroxysteroid dehydrogenase type 7; 3-beta-HSD VII; C(27)-3BETA-HSD; c(27) 3-beta-HSD; 3 beta-hydroxysteroid dehydrogenase type VII; 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase; short chain dehydrogenase/reductase family 11E, member 3
• UniProt Protein Name: 3 beta-hydroxysteroid dehydrogenase type 7
• Protein Family: 3 beta-hydroxysteroid dehydrogenase
• UniProt Gene Name: HSD3B7
• UniProt Synonym Gene Names: 3-beta-HSD VII; C(27) 3-beta-HSD
• UniProt Entry Name: 3BHS7_HUMAN

NCBI Description

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]

Uniprot Description

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

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: endoplasmic reticulum membrane; integral to membrane

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

Biological Process: bile acid biosynthetic process; bile acid metabolic process

Disease: Bile Acid Synthesis Defect, Congenital, 1