Aliases for HNF4A Gene
External Ids for HNF4A Gene
Previous HGNC Symbols for HNF4A Gene
Previous GeneCards Identifiers for HNF4A Gene
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]
GeneCards Summary for HNF4A Gene
HNF4A (Hepatocyte Nuclear Factor 4 Alpha) is a Protein Coding gene. Diseases associated with HNF4A include Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young and Maturity-Onset Diabetes Of The Young, Type 1. Among its related pathways are PAK Pathway and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HNF4G.
UniProtKB/Swiss-Prot for HNF4A Gene
Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine.