Three rare missense variants in the CACNB2 gene were identified in ASD probands from the Autism Genetic Resource Exchange (AGRE); while these variants showed incomplete segregation with ASD in the probands' respective families, all three variants altered time-dependent inactivation of Ca2+ channels in whole-cell patch-clamp recordings of HEK293 cells expressing mutant CACNB2 (Breitenkamp et al., 2014).
Molecular Function
This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. Mutations in this gene are associated with Brugada syndrome 4 (BRGDA4) [MIM:611876], a heart disease characterized by the association of Brugada syndrome with shortened QT intervals.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.
