Hepatocyte Nuclear Factor 1 Beta, ELISA Kit

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 17; NC_000017.10 (36046434..36105096, complement). Location: 17q12

Store all reagents at 2-8 degree C

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Small volumes of HNF1beta elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS064038 is a ready-to-use microwell, strip-or-full plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Hepatocyte Nuclear Factor 1 Beta (HNF1beta) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing HNF1beta. The ELISA analytical biochemical technique of the MBS064038 kit is based on HNF1beta antibody-HNF1beta antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect HNF1beta antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, HNF1beta. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

61,324 Da

HNF1 homeobox B

hepatocyte nuclear factor 1-beta; HNF-1-beta; HNF1 beta A; homeoprotein LFB3; transcription factor 2, hepatic

Hepatocyte nuclear factor 1-beta

TCF2; HNF-1-beta; HNF-1B; TCF-2; vHNF1  [Similar Products]

HNF1B_HUMAN

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

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