HNF1A
LOCUS ID6927
GENE_SYMBOLHNF1A
GENE NAMEHNF1 homeobox A
SYNONYMNSHNF1, LFB1, TCF1, MODY3, TCF-1, HNF-1A, IDDM
CHROMOSOME12
HOMOLOGENE ID459
GENE SUMMARY
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATTTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Altertive splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]