HNF4A
LOCUS ID3172
GENE_SYMBOLHNF4A
GENE NAMEhepatocyte nuclear factor 4, alpha
SYNONYMNSTCF, HNF4, MODY, FRTS4, MODY1, NR2A1, TCF14,
CHROMOSOME20
HOMOLOGENE ID395
GENE SUMMARY
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 splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]