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Gene Review

PTF1A  -  pancreas specific transcription factor, 1a

Homo sapiens

Synonyms: BHLHA29, Class A basic helix-loop-helix protein 29, PACA, PAGEN2, PTF1-p48, ...
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High impact information on PTF1A

  • Reporter-gene studies using a minimal PTF1A deletion mutant indicate that the deleted region defines a new domain that is crucial for the function of this protein [1].
  • PTF1A is known to have a role in mammalian pancreatic development, and the clinical phenotype of the affected individuals implicated the protein as a key regulator of cerebellar neurogenesis [1].
  • The role of PTF1-P48 in pancreatic acinar gene expression [2].


  1. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Sellick, G.S., Barker, K.T., Stolte-Dijkstra, I., Fleischmann, C., Coleman, R.J., Garrett, C., Gloyn, A.L., Edghill, E.L., Hattersley, A.T., Wellauer, P.K., Goodwin, G., Houlston, R.S. Nat. Genet. (2004) [Pubmed]
  2. The role of PTF1-P48 in pancreatic acinar gene expression. Rose, S.D., Swift, G.H., Peyton, M.J., Hammer, R.E., MacDonald, R.J. J. Biol. Chem. (2001) [Pubmed]
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