Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.[5][6][7]
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. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified.[7]
Mutations in CACNB1 are known to cause the following conditions: Malignant Hyperthermia; Congenital Myopathy; Alzheimer's Disease; Autism Spectrum Disorder.[8]
PDB gallery
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1t0h: Crystal structure of the Rattus norvegicus voltage gated calcium channel beta subunit isoform 2a
1t0j: Crystal structure of a complex between voltage-gated calcium channel beta2a subunit and a peptide of the alpha1c subunit
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see also disorders |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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