Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Ca_v1.4 Ca²⁺ channels.

ABSTRACT: Voltage-gated Ca_v1 and Ca_v2 Ca²⁺ channels are comprised of a pore-forming α₁ subunit (Ca_v1.1-1.4, Ca_v2.1-2.3) and auxiliary β (β_1-4) and α₂δ (α₂δ-1-4) subunits. The properties of these channels vary with distinct combinations of Ca_v subunits and alternative splicing of the encoding transcripts. Therefore, the impact of disease-causing mutations affecting these channels may depend on the identities of Ca_v subunits and splice variants. Here, we analyzed the effects of a congenital stationary night blindness type 2 (CSNB2)-causing mutation, I745T (IT), in Ca_v1.4 channels typical of those in human retina: Ca_v1.4 splice variants with or without exon 47 (

SUBMITTER: Williams B 

PROVIDER: S-EPMC7863891 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature