HNF4A (NM_000457) - hepatocyte nuclear factor 4 alpha
Hepatocyte Nuclear Factor 4-Alpha Isoform 2
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Protein 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].
- Strand
- +
- Chromosome
- 20
- Protein
- 474 residues
- All mutations
- 139
- PTM sites
- 37
- CDS
- 43,030,012 - 43,058,305
- Transcription
- 43,029,895 - 43,061,485
Usage summary
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