Target:HNF-1β
Fields:Maturity onset diabetes of the young
Gene Name:HNF1B
Protein Name:Hepatocyte nuclear factor 1-beta
Human Gene Id:6928/6928
Human Swiss Prot No:P35680
Mouse Gene Id:21410
Mouse Swiss Prot No:P27889
Rat Gene Id:25640
Rat Swiss Prot No:P23899
Immunogen:Synthesized peptide derived from the N-terminal region of human HNF-1β.
Specificity:HNF-1β Polyclonal Antibody detects endogenous levels of HNF-1β protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500 - 1:2000. ELISA: 1:10000. Not yet tested in other applications.
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name: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
Observed Band(KD):60kD
Background: 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],
Function: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
Subcellular Location:Nucleus.
Expression: Colon,Liver,Thalamus,