3β-HSD7 Rabbit Polyclonal Antibody

3β-HSD7 Rabbit Polyclonal Antibody

Size1:50μl Price1:$118
Size2:100μl Price2:$220
Size3:500μl Price3:$980
SKU: APRab06321 Category: Polyclonal Antibody Tags: , ,

Datasheet

Summary

Production Name

3β-HSD7 Rabbit Polyclonal Antibody

Description

Rabbit Polyclonal Antibody

Host

Rabbit

Application

WB,

Reactivity

Human,Mouse,Rat

 

Performance

Conjugation

Unconjugated

Modification

Unmodified

Isotype

IgG

Clonality

Polyclonal

Form

Liquid

Storage

Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.

Buffer

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.

Purification

Affinity purification

 

Immunogen

Gene Name

HSD3B7

Alternative Names

HSD3B7; 3 beta-hydroxysteroid dehydrogenase type 7; 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; C(27) 3-beta-HSD; Cholest-5-ene-3-beta; 7-alpha-diol 3-beta-dehydrogenase

Gene ID

80270

SwissProt ID

Q9H2F3

 

Application

Dilution Ratio

WB 1:500 - 1:2000. ELISA: 1:20000. Not yet tested in other applications.

Molecular Weight

41kD

 

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],catalytic activity:3-beta-hydroxy-Delta(5)-steroid + NAD(+) = 3-oxo-Delta(5)-steroid + NADH.,catalytic activity:Cholest-5-ene-3-beta,7-alpha-diol + NAD(+) = 7-alpha-hydroxycholest-4-en-3-one + NADH.,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.,function:Plays a central role during spermatogenesis by repressing transposable elements and prevent their mobilization, which is essential for the germline integrity. Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells. Its presence in oocytes suggests that it may participate to similar functions during oogenesis in females. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Associates with primary piRNAs in the cytoplasm and is required for PIWIL4/MIWI2 nuclear localization and association with secondary piRNAs antisense. The piRNA process acts upstream of known mediators of DNA methylation. Participates to a piRNA amplification loop. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation. Indirectly modulate expression of genes such as PDGFRB, SLC2A1, ITGA6, GJA7, THY1, CD9 and STRA8. Inhibits tumor cell growth when repressed. When overexpressed, acts as an oncogene by inhibition of apoptosis and promotion of proliferation in tumors.,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.,pathway:Lipid metabolism; steroid biosynthesis.,sequence caution:Translated as Arg.,similarity:Belongs to the 3-beta-HSD family.,similarity:Belongs to the argonaute family. Piwi subfamily.,similarity:Contains 1 PAZ domain.,similarity:Contains 1 Piwi domain.,subcellular location:Present in chromatoid body. Probable component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon during meiosis.,subunit:Interacts with DDX4, MAEL, EIF3A, EIF4E and EIF4G. Associates with EIF4E- and EIF4G-containing m7G cap-binding complexes.,tissue specificity:Expressed in adult testis and in most tumors.,

 

Research Area

Primary bile acid biosynthesis;Dorso-ventral axis formation;