| Protein Name | HNF1 homeobox A |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 6927 |
| Gene Symbol | HNF1A |
| UniProt | P20823 (HNF1A_HUMAN), E0YMI7 (E0YMI7_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
187
Total Number of Articles : 332 |
Description |
HNF1 homeobox A |
| Gene 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] |
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