HNF1α (Phospho Ser247) rabbit pAb

disease:Defects in HNF1A are a cause of susceptibility to insulin-dependent diabetes mellitus (IDDM) [MIM:222100].,disease:Defects in HNF1A are the cause of maturity onset diabetes of the young type 3 (MODY3) [MIM:600496]; also symbolized MODY-3. MODY [MIM:606391] is a form of diabetes characterized by an autosomal dominant mode of inheritance, age of onset of 25 years or younger and a primary defect in insulin secretion. The clinical phenotype of MODY3 is characterized by severe insulin secretory defects, and by major hyperglycemia associated with microvascular complications.,disease:Defects in HNF1A may predispose to hepatic adenomas [MIM:142330]. Hepatic adenomas are benign tumors at risk of malignant transformation. Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the developmant of some hepatocellular carcinomas.,function:Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.,online information:Hepatocyte nuclear factors entry,polymorphism:The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses.,similarity:Belongs to the HNF1 homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Binds DNA as a dimer.,tissue specificity:Liver.,