Gene Symbol | HNF1B |
Entrez Gene ID | 6928 |
Full Name | HNF1 homeobox B |
Synonyms | FJHN,HNF-1-beta,HNF-1B,HNF1beta,HNF2,HPC11,LF-B3,LFB3,MODY5,TCF-2,TCF2,VHNF1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Renal cysts and diabetes syndrome, 137920 (3); Diabetes mellitus, noninsulin-dependent, 125853 (3); {Renal cell carcinoma}, 144700 (3) |