The hepatocyte nuclear factor 1 alpha (HNF1A) gene is expressed in liver, pancreas, kidney, and intestine. The HNF1A protein is a member of the homeodomain-containing superfamily of nuclear transcription factors and regulates the expression of the genes that encode insulin (INS), glucose transporter (GLUT) 1 and 2, and sodium/glucose cotransporter 2 (SGLT2). Heterozygous mutations in the HNF1A gene cause progressive beta cell dysfunction, reduced glucose-stimulated insulin secretion, and low renal threshold for glucose (glycosuria). HNF1A-MODY is typified by transient neonatal hyperinsulinemic hypoglycemia, progressive development of hyperglycemia during childhood, and onset of diabetes mellitus by 25 years of age. Patients with HNF1A-MODY are usually at risk of developing diabetes-related complications because glycemic control worsens over time (PMID: 33292863).
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