Aliases: CaMK IV, CaMK-GR, CaMKIV, caMK
Chromosome No: 5
Chromosome Band: 5q22.1
Genetic Category: Genetic association-Rare single gene variant
ASD Reports: 6
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 7
Evidence score: 3
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Relevance to Autism
De novo variants in the CAMK4 gene have been identified in three individuals presenting with dystonia and involuntary movements including chorea or myoclonus, developmental delay, intellectual disability, and ASD and other behavioral problems (Zech et al., 2018; Zech et al., 2020; Zech et al., 2021). A coding-synonymous variant in the CAMK4 gene (rs25925) had previously been shown to associate with ASD [odds ratio 1.30 (95% CI 1.02-1.66), P value 0.035] in a family-based association study of 446 German families; the minor allele of this variant was predicted to alter exonic splicing enhancer elements, and quantitative PCR analysis demonstrated that homozygous carriers of the minor risk allele showed increased levels of a truncated CAMK4 isoform in blood (Waltes et al., 2014).
Molecular Function
The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells.
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