Relevance to Autism

Rigter et al., 2024 described a cohort of eight individuals with heterozygous CAMK2D variants presenting with a developmental disorder consisting of developmental delay or intellectual disability characterized by speech and motor delay, dilated cardiomyopathy, dysmorphic features, variable skeletal malformations, and behavioral anomalies, including autism spectrum disorder in four individuals; functional assessment of CAMK2D missense variants identified in affected individuals in this report demonstrated either loss-of-function or gain-of-function effects. A maternally-inherited loss-of-function variant in this gene had previously been observed in an ASD proband from a multiplex family from the AGRE cohort in Cirnigliaro et al., 2023.

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. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain.

External Links

References