Alternative products:Additional isoforms seem to exist ,Disease:Defects in HNF4A are the cause of maturity onset diabetes of the young type 1 (MODY1) [MIM:125850]; also shortened MODY-1. MODY [MIM:606391] is a form of diabetes that is characterized by an autosomal dominant mode of inheritance , onset in childhood or early adulthood (usually before 25 years of age) and a primary defect in insulin secretion. The clinical phenotype of MODY1 is characterized by severe insulin secretory defects , and by major hyperglycemia associated with microvascular complications. ,Function: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. ,miscellaneous:Binds fatty acids. ,online information:Hepatocyte nuclear factors entry ,PTM:Phosphorylated on tyrosine residue (s) ; phosphorylation is important for its DNA-binding activity. Phosphorylation may directly or indirectly play a regulatory role in the subnuclear distribution. ,similarity:Belongs to the nuclear hormone receptor family. ,similarity:Belongs to the nuclear hormone receptor family. NR2 subfamily. ,similarity:Contains 1 nuclear receptor DNA-binding domain. ,subunit:Homodimerization is required for HNF4-alpha to bind to its recognition site. ,
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