Aliases: AAG6, PKC-alpha, PKCA, PKCI+/-, PKCalpha, PRKACA
Chromosome No: 17
Chromosome Band: 17q24.2
Genetic Category: Rare single gene variant--Functional
ASD Reports: 7
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 8
Evidence score: 2
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Relevance to Autism
De novo missense variants in the PRKCA gene have been identified in three ASD probands (De Rubeis et al., 2014; Iossifov et al., 2014) and two probands with unspecified developmental disorders (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified PRKCA as a gene with an excess of missense variants (false discovery rata < 5%, count >1) (Coe et al., 2018).
Molecular Function
Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in positive and negative regulation of cell proliferation, apoptosis, differentiation, migration and adhesion, tumorigenesis, cardiac hypertrophy, angiogenesis, platelet function and inflammation, by directly phosphorylating targets such as RAF1, BCL2, CSPG4, TNNT2/CTNT, or activating signaling cascade involving MAPK1/3 (ERK1/2) and RAP1GAP.
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