PLCG1 Gene

The PLCG1 gene (PLCG1 is the acronym for phospholipase C gamma 1) is a protein-coding gene located on chromosome 20q12. Two transcript variants encoding different isoforms have been found for this gene. The protein encoded by this gene catalyzes the formation of inositol-1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol-4,5-bisphosphate. This reaction utilizes calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators.

For example, when the encoded phospholipase C gamma 1 is activated by SRC, it induces the Ras-guanine nucleotide exchange factor RasGRP1 to migrate to the Golgi, where it activates Ras. In addition, this protein has been shown to be a major substrate for tyrosine kinase activated by heparin-binding growth factor 1 (acidic fibroblast growth factor).

Biochemical processes associated with this gene include calcium ion binding and signal transducer activities. An important paralog of this gene is PLCG2.

Diseases associated with PLCG1 include paroxysmal nocturnal hemoglobinuria, Tangier disease, and some cutaneous and other peripheral T-cell lymphomas (Tensen CP 2015; Kataoka K et al. 2015).

1. Kataoka K et al (2015) Integrated molecular analysis of adult T cell leukemia/lymphoma. Nat Genet 47:1304-1315.
2. Tensen CP (2015) PLCG1 gene mutations in cutaneous T-cell lymphomas revisited. J Invest Dermatol. 135: 2153-2154.