Gene Symbol | HNF1A |
Entrez Gene ID | 6927 |
Full Name | HNF1 homeobox A |
Synonyms | HNF-1A,HNF1,IDDM20,LFB1,MODY3,TCF-1,TCF1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. |
Disorder MIM: | |
Disorder Html: | MODY, type III, 600496 (3); {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3); {Diabetes mellitus, insulin-dependent}, 222100 (3); Hepatic adenoma, somatic, 142330 (3); Renal cell carcinoma, 144700 (3); Diabetes mellitus, insulin-dependent, 20, 612520 (3) |