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Target intelligence / Profile preview
Voltage-dependent L-type calcium channel subunit beta 1 (CACNB1)
- Target
- CACNB1
- Molecular classification
- Ion channel subunit, Calcium Channel Beta Subunit
01
Overview
The L-type voltage-gated calcium channel beta 1 subunit, encoded by the CACNB1 gene, is a critical auxiliary component of high-voltage-activated calcium channels. It belongs to the calcium channel beta subunit family and plays a key modulatory role in the function of these channels. It modulates G protein inhibition of the channel, increases peak calcium current through the channel, controls membrane targeting of the alpha-1 (pore-forming) subunit, and shifts voltage dependence for activation and inactivation. Mutations or dysfunctions involving CACNB1 have been linked with malignant hyperthermia, congenital myopathy, Alzheimer's disease, and autism spectrum disorder.
- Other names
- CAB1CCHLB1CACNLB11
02
Biological functions
Calcium ion transmembrane transportMuscle contractionAssembly of voltage-gated Ca2+ channel complexesRegulation of calcium channel activity
03
Disease associations
Malignant HyperthermiaCongenital MyopathyAlzheimer's DiseaseAutism Spectrum Disorder
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