Summary

Performance

Immunogen

Application

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],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 syndrome (RCAD) [MIM:137920]; also called maturity-onset diabetes of the young type 5 (MODY5) or familial hypoplastic glomerulocystic kidney disease (GCKD). RCAD is an autosomal dominant disorder comprising (1) nondiabetic renal disease resulting from abnormal renal development, and (2) diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy.,disease:Defects in HNF1B may be rare genetic risk factor contributing to the development of type 2 diabetes mellitus non-insulin dependent (NIDDM) [MIM:125853].,function:Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.,online information:Hepatocyte nuclear factors entry,similarity:Belongs to the HNF1 homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Binds DNA as a dimer. Can form homodimer or heterodimer with HNF1-alpha.,

Research Area

Maturity onset diabetes of the young;