Aliases: CAB1, CACNLB1, CCHLB1
Chromosome No: 17
Chromosome Band: 17q12
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 1
Evidence score: 2
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Relevance to Autism
Genome-wide investigation of tandem repeats in 17,231 genomes of families with autism from the Autism Speaks MSSNG project and the Simons Simplex Collection in Trost et al., 2020 identified a rare tandem repeat expansion in the CACNB1 gene (chr17:39182673-39183931 (AAGGAGGAG;AAGAAGGAG)) in seven unrelated ASD probands. This tandem repeat in CACNB1 was observed in more than 0.1% of ASD-affected individuals in this cohort and had a frequency less than 0.1% in unaffected siblings, 1000 Genomes, and 1,612 additional population controls from GTEx and the Mayo Clinic Biobank.
Molecular Function
The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation.
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