Symbol: Name: ID: |
CACNB4 calcium channel, voltage-dependent, beta 4 subunit GFS:3468 |
Gene name: | CACNB4 |
Chromosome: | 2q22-q23 |
Previous Symbols: | |
Previous Names: | |
Aliases: | EJM4 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:103301 | Rat Genome Database ID: | RGD:68385 |
HGNC ID: | HGNC:1404 | RefSeq IDs: | NM_000726 |
Entrez Gene ID: | 785 | Ensembl Gene ID: | ENSG00000182389 |
VEGA IDs: | OTTHUMG00000155091 | UniProt ID: | O00305 |
UCSC ID: | uc002tya.2 | OMIM ID: | 601949 |
Pubmed: | PMID9628818 | ||
CCDS IDs: | CCDSCCDS46426.1 CCDS CCDS46427.1 CCDS CCDS46428.1 |
Voltage-dependent L-type calcium channel subunit beta-4 is a protein that in humans is encoded by the CACNB4 gene.
This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function 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. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].
Function: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.
Products for CACNB4 gene
Catalog | Product Name | Application | Company |
GFS:E03468 | calcium channel, voltage-dependent, beta 4 subunit; ELISA kit | ELISA | n/a |
GFS:A03468 | calcium channel, voltage-dependent, beta 4 subunit; Anti | ANTIBODIES | n/a |
GFS:P03468 | calcium channel, voltage-dependent, beta 4 subunit; Protien | Protien | n/a |