产品名称
HNF1A Rabbit Polyclonal Antibody
蛋白名称
Hepatocyte nuclear factor 1-alpha (HNF-1-alpha) (HNF-1A) (Liver-specific transcription factor LF-B1) (LFB1) (Transcription factor 1) (TCF-1)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
P20823
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P20823/entry
Mouse Swissprot No.
P22361
Mouse Swissprot Link
http://www.uniprot.org/uniprot/P22361
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941P15257
免疫原
Synthesized peptide derived from part region of human protein
特异性
HNF1A Polyclonal Antibody detects endogenous levels of protein.
宿主
Polyclonal, Rabbit,IgG
背景介绍
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015],
信号通路
Maturity onset diabetes of the young;
功能
disease:Defects in HNF1A are a cause of susceptibility to insulin-dependent diabetes mellitus (IDDM) [MIM:222100].,disease:Defects in HNF1A are the cause of maturity onset diabetes of the young type 3 (MODY3) [MIM:600496]; also symbolized MODY-3. MODY [MIM:606391] is a form of diabetes characterized by an autosomal dominant mode of inheritance, age of onset of 25 years or younger and a primary defect in insulin secretion. The clinical phenotype of MODY3 is characterized by severe insulin secretory defects, and by major hyperglycemia associated with microvascular complications.,disease:Defects in HNF1A may predispose to hepatic adenomas [MIM:142330]. Hepatic adenomas are benign tumors at risk of malignant transformation. Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the developmant of some hepatocellular carcinomas.,function:Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.,online information:Hepatocyte nuclear factors entry,polymorphism:The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses.,similarity:Belongs to the HNF1 homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Binds DNA as a dimer.,tissue specificity:Liver.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.