Reactome: A Curated Pathway Database

HNF1A-dependent synthesis of the L isoform of PKLR protein (R-HSA-211461) [Homo sapiens]

Black Box Event

The PKLR gene is transcribed, its mRNA is translated, spliced, and translated to yield the L isoform of PKLR protein. PKLR expression is positively regulated by HNF1A. Mutations in HNF1A are associated with a form of MODY (maturity onset diabetes of the young) (Fanjans et al. 2001) but the molecular details of PKLR expression in intact pancreatic beta cells have not been studied in humans, and are inferred from corresponding ones worked out in the mouse.

Additional Information
Compartment nucleoplasm , cytosol
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