Relevance to Autism

A number of de novo variants in the TRPM3 gene, including a frameshift variant and a potentially damaging missense variant, have been observed in ASD probands (Iossifov et al., 2014; Satterstrom et al., 2020; Zhou et al., 2022). De novo gain-of-function variants in TRPM3 have been shown to cause a form of developmental and epileptic encephalopathy characterized by global developmental delay and intellectual disability, epilepsy, hypotonia, altered heat and/or pain sensitivity, and variable facial dysmorphism; a subset of affected individuals have been reported to also present with autism spectrum disorder, autistic features, and/or stereotypy (Dyment et al., 2019; de Sainte Agathe et al., 2020; Kang et al., 2021; Gauthier et al., 2021; Lines et al., 2022; Burglen et al., 2023).

Molecular Function

The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion.

External Links

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