HNF4A

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]

Description

hepatocyte nuclear factor 4 alpha

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Nuclear receptors, Predicted intracellular proteins, Protein evidence (Peptideatlas), Transcription factors

Chromosome

20:q13.12 (44355700 - 44434596)

Ensembl ID

ENSG00000101076  (ver. 99.38)

Orthologs

Mouse Hnf4a: ENSMUSG00000017950

UniProt

P41235

neXtProt

NX_P41235

Human splice variants
Mouse splice variants