A rare deletion of the PLCB1 gene was found in an individual with ASD (Christian et al., 2008). Biallelic loss-of-function variants in this gene have also been identified in individuals with early-onset epileptic encephalopathy (Kurian et al., 2010; Poduri et al., 2012; Ngoh et al., 2014).
Molecular Function
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 many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
