HNF1A-dependent synthesis of the L isoform of PKLR protein Authored: Ferrer, J, Tello-Ruiz, MK, 2008--0-5- Edited: D'Eustachio, P, 2008-05-12 21:43:33 Pubmed11575290 Reactome Database ID Release 43211461 Reactome, http://www.reactome.org ReactomeREACT_13675 Reviewed: Jensen, J, 2008-05-12 21:46:53 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.