CACNB1

CACNB1 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1) is a Protein Coding gene. Diseases associated with CACNB1 include Malignant Hyperthermia and Malignant Hyperthermia Susceptibility. Among its related pathways are Cardiac conduction and NFAT and Cardiac Hypertrophy. 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.

Full Name

Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1

Function

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).

Biological Process

Cardiac conduction Source: Reactome
Cellular response to amyloid-beta Source: ARUK-UCL
Chemical synaptic transmission Source: GO_Central
Neuromuscular junction development Source: GO_Central
Regulation of calcium ion transmembrane transport via high voltage-gated calcium channel Source: ARUK-UCL
Regulation of voltage-gated calcium channel activity Source: GO_Central

Cellular Location

Sarcolemma; Cell membrane