Relevance to Autism

Seo et al., 2023 observed that Trpc4-/- mice displayed core symptoms of ASD (social disability and repetitive behaviors). De novo variants in the TRPC4 gene, including a de novo splice-site variant and two de novo missense variants that were predicted to be deleterious, have also been identified in ASD probands (De Rubeis et al., 2014; Zhou et al., 2022; Gupta et al., 2023).

Molecular Function

This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity (von Spiczak et al., 2010).

External Links

References