蛋白名称
Hepatocyte nuclear factor 1-beta
免疫原
Synthesized peptide derived from the N-terminal region of human HNF-1β.
特异性
HNF-1β Monoclonal Antibody detects endogenous levels of HNF-1β protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
Western Blot: 1/500 - 1/2000
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
HNF1B; TCF2; Hepatocyte nuclear factor 1-beta; HNF-1-beta; HNF-1B; Homeoprotein LFB3; Transcription factor 2; TCF-2; Variant hepatic nuclear factor 1; vHNF1
背景
This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009],
功能
disease:A genetic variation in HNF1B is associated with susceptibility to hereditary prostate cancer type 11 (HPC11) [MIM:611955].,disease:Defects in HNF1B are a cause of Muellerian aplasia [MIM:158330]. In a Norwegian family with a novel syndrome of mild diabetes and severe non-diabetic renal disease, Muellerian aplasia expressed as vaginal aplasia and rudimentary uterus, were found in 2 females. These findings suggest that a broader spectrum of clinical symptoms may be associated with defects in HNF1B than previously recognized.,disease:Defects in HNF1B are the cause of maturity-onset diabetes of the young type 5 (MODY5) [MIM:604284]. MODY [MIM:606391] is a form of diabetes mellitus characterized by an autosomal dominant mode of inheritance, age of onset of 25 years or younger and a primary defect in insulin secretion.,disease:Defects in HNF1B are the cause of renal cysts and diabetes
