Aliases: RP1-172B20.4, Cav3.3, ca(v)3.3
Chromosome No: 22
Chromosome Band: 22q13.1
Genetic Category: Genetic association-Rare single gene variant-
ASD Reports: 6
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 5
Evidence score: 2
Relevance to Autism
An imputed SNP within the CACNA1I gene (rs5750860) showed association with ASD in a family-based association study in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP) (Lu et al., 2012).
This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons.