| HNF1A |
| LOCUS ID | 6927 | |||||||||||||
| GENE_SYMBOL | HNF1A | |||||||||||||
| GENE NAME | HNF1 homeobox A | |||||||||||||
| SYNONYMNS | HNF1, LFB1, TCF1, MODY3, TCF-1, HNF-1A, IDDM20 | |||||||||||||
| CHROMOSOME | 12 | |||||||||||||
| HOMOLOGENE ID | 459 |
| microRNAs | miR-192/194 | 21294859 |
| GENE SUMMARY |
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| 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'-GTTAATTTAAC-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. Altertive splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. However, the functional analysis and the trend in genetic analysis suggest that the HNF1A gene may have primary genetic impact on the development of diabetic nephropathy. | 22849862 |
| Retinopathy | 1. This study demonstrated that the common HNF1A diplotype of three risk variants may be an independent risk factor for the development of DR resulting from poor glycemic control in normal-weight patients with T2DM. These results need to be replicated in larger and more varied study populations. | 27445006 |