HNF1A

About HNF1A

HNF1A on chromosome 12q24.31 encodes hepatocyte nuclear factor 1 alpha, a transcription factor expressed in the liver, kidney, intestine, and pancreatic beta cells, where it regulates genes needed for insulin secretion. Heterozygous variants cause HNF1A maturity onset diabetes of the young, often called MODY3, one of the most common forms of monogenic diabetes. It is inherited in an autosomal dominant pattern and typically appears in adolescence or early adulthood with progressive beta cell dysfunction, often in people without obesity and with a strong family history across generations. It is frequently misdiagnosed as type 1 or type 2 diabetes. A distinctive feature is marked sensitivity to sulfonylurea medications, which is one reason identifying the genetic cause can change how diabetes is managed. Low renal glucose threshold, causing glucose in the urine, is also characteristic.