PLCG1

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The PLCG1 gene at 20q12 codes for the 1177 amino acid pro-peptide of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1. This catalyses the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). It therefor plays an important role in the regulation of intracellular signalling cascades. It is activated by ligand-mediated activation of receptor-type tyrosine kinases. Roles include actin reorganization and cell migration. It has binding interactions with over 40 other proteins. Two isoforms are known.

Catalytic activity:

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol

Variations are found in some malignant cell lines such as 3-5% of the cutaneous T-cell lymphoma tumour genomes causing mycosis fungoides or Sézary syndrome.

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