Aliases for CACNB1 Gene
External Ids for CACNB1 Gene
Previous HGNC Symbols for CACNB1 Gene
Previous GeneCards Identifiers for CACNB1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for CACNB1 Gene
CACNB1 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1) is a Protein Coding gene. Diseases associated with CACNB1 include Malignant Hyperthermia and Headache. Among its related pathways are Presenilin-Mediated Signaling and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB2.
UniProtKB/Swiss-Prot Summary for CACNB1 Gene
Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:8107964, PubMed:15615847). Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane (PubMed:15615847). Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit (PubMed:1309651). Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit (PubMed:8107964).