Rabbit anti-Human HSD3B7 Polyclonal Antibody | anti-HSD3B7 antibody

HSD3B7 Rabbit pAb

Cat. Num. AAA4754435

• Gene Names: HSD3B7; CBAS1; PFIC4; SDR11E3
• Reactivity: Human
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: Affinity purified
• Synonyms: HSD3B7; Polyclonal Antibody; HSD3B7 Rabbit pAb; CBAS1; PFIC4; SDR11E3; anti-HSD3B7 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: Rabbit IgG
• Purity/Purification: Affinity purified
• Form/Format: -20 degree C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol

• Applicable Applications for anti-HSD3B7 antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry-Paraffin (IHC-P)
• Application Notes: WB: 1:500-1:2000
• Immunogen: Fusion protein of human HSD3B7
• Conjugation: Unconjugated
• Molecular Function: 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.
• Modification: Unmodified
• Cell Position: Endoplasmic reticulum, Membrane
• Preparation and Storage: Store at 4 degree C for short term. Store at -20 degree C for long term. Avoid freeze/thaw cycle.

Western Blot (WB)

(Gel: 8%SDS-PAGE, Lysate: 40 ug, Lane: Skov3 cells, Primary antibody: 122512(HSD3B7 Antibody) at dilution 1/400, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 10 seconds)

Immunohistochemistry (IHC)

(The image is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using 122512(HSD3B7 Antibody) at dilution 1/40. (Original magnification: ×200))

Immunohistochemistry (IHC)

(The image is immunohistochemistry of paraffin-embedded Human liver cancer tissue using 122512(HSD3B7 Antibody) at dilution 1/40. (Original magnification: ×200))

Product Categories/Family for anti-HSD3B7 antibody

Primary antibody

NCBI and Uniprot Product Information

• NCBI GI #: 13436259
• NCBI GeneID: 80270
• UniProt Accession #: Q9H2F3; Q96M28; Q9BSN9
• Molecular Weight: 21,322 Da
• NCBI Official Full Name: Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7, mRNA
• 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-hydroxy-delta 5-C27-steroid oxidoreductase; 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; C(27)-3BETA-HSD; c(27) 3-beta-HSD; cholest-5-e
• 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: EC 1.1.1.181; Membrane protein, multi-pass; Lipid Metabolism - primary bile acid biosynthesis; Oxidoreductase; 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