Gene Symbol | HNF4A |
Entrez Gene ID | 3172 |
Full Name | hepatocyte nuclear factor 4 alpha |
Synonyms | FRTS4,HNF4,HNF4a7,HNF4a8,HNF4a9,HNF4alpha,MODY,MODY1,NR2A1,NR2A21,TCF,TCF14 |
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 nuclear transcription factor which binds DNA 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 splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | MODY, type I, 125850 (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3) |