| HNF4A |
| LOCUS ID | 3172 | ||||||||||
| GENE_SYMBOL | HNF4A | ||||||||||
| GENE NAME | hepatocyte nuclear f | ||||||||||
| SYNONYMNS | TCF, HNF4, MODY, FRTS4, MODY1, NR2A1, TCF14, HNF4a7, HNF4a | ||||||||||
| CHROMOSOME | 20 | ||||||||||
| HOMOLOGENE ID | 395 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| The protein encoded by this gene is a nuclear transcription factor which binds D as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Cardiovascular | 1. Considering a strong association between human HNF4A polymorphisms and increased risk of type 2 diabetes our current findings suggest that downregulation of AGXT2 and subsequent impairment in metabolism of dimethylarginines and BAIB caused by HNF4A deficiency might contribute to development of cardiovascular complications in diabetic patients. | 27752141 |