PLCG1 Chromosome 20

Phospholipase C gamma 1
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Phospholipases|Pleckstrin homology domain containing|SH2 domain containing|C2 domain containing phospholipases|EF-hand domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
20q12
Ensembl
ENSG00000124181
Associated Conditions (3)
Immune dysregulation
autoimmunity
and autoinflammation
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2515585150 Health Risk Pathogenic Immune dysregulation, autoimmunity, and autoinflammation
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