Aliases: PKC-MU, PKCM, PKD, PRKCM
Chromosome No: 14
Chromosome Band: 14q12
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Rett syndrome
ASD Reports: 7
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
Three patients with atypical Rett syndrome were found to have a de novo 14q12 deletion that included the PRKD1 gene, but not the neighboring FOXG1 gene (Ellaway et al., 2012). Gene expression analysis demonstrated a decrease in both FOXG1 and PRKD1 mRNA expression levels in two of these patients. However, no pathogenic mutations in PRKD1 were identified following screening of an additional 32 patients with atypical Rett syndrome.
Molecular Function
The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion.
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