HNF1 Beta (HNF1B) Antibody – Rabbit Polyclonal

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]

TCF2: Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in HNF1B are the cause of renal cysts and diabetes syndrome (RCAD); 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 non-diabetic renal disease resulting from abnormal renal development, and 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 (MODY5). 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. Defects in HNF1B may be rare genetic risk factor contributing to the development of non-insulin-dependent diabetes mellitus (NIDDM). NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood and insulin resistance. Defects in HNF1B may be a cause of susceptibility to prostate cancer hereditary type 11 (HPC11). It is a condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. Belongs to the HNF1 homeobox family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 17q12

Cellular Component: nucleoplasm; transcription factor complex; nucleus

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; protein homodimerization activity; DNA binding; protein heterodimerization activity; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; endodermal cell fate specification; regulation of Wnt receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; endocrine pancreas development; pronephros development; anterior/posterior pattern formation; genitalia development; epithelial cell proliferation; inner cell mass cell differentiation; branching morphogenesis of a tube; insulin secretion; embryonic digestive tract morphogenesis; response to glucose stimulus; regulation of endodermal cell fate specification; kidney development; hindbrain development

Disease: Renal Cysts And Diabetes Syndrome; Renal Cell Carcinoma, Nonpapillary; Diabetes Mellitus, Noninsulin-dependent