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"-GTTAATNATTAAC-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. Mouse monoclonal antibody raised against partial recombinant HNF1A.
Pathway
Adipogenesis, organism-specific biosystem; FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem; IL-6 Signaling Pathway, organism-specific biosystem; Maturity onset diabetes of the young, organism-specific biosystem; Maturity onset diabetes of the young, conserved biosystem; Presenilin action in Notch and Wnt signaling, organism-specific biosystem.
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