The HNF1A gene (HNF1A stands for HNF1 Homeobox A) is a protein-coding gene located on chromosome 12q24.31. Alternative splicing results in multiple transcript variants encoding different isoforms.
HNF1A gene
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Defects in this gene are a cause of Maturity Onset Diabetes of the Young type 3(MODY3) and can also lead to the occurrence of hepatic adenomas.
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- Valkovicova T et al. (2019) Novel insights into genetics and clinics of the HNF1A-MODY. Endocr Regul 53:110-134.