CACNB4

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Voltage-dependent L-type calcium channel subunit beta-4 is a protein that in humans is encoded by the CACNB4 gene.[5][6]

PDBOrtholog search: PDBe RCSB
AliasesCACNB4, CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6, calcium voltage-gated channel auxiliary subunit beta 4
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CACNB4
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCACNB4, CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6, calcium voltage-gated channel auxiliary subunit beta 4
External IDsOMIM: 601949; MGI: 103301; HomoloGene: 20188; GeneCards: CACNB4; OMA:CACNB4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 2: 151.83 – 152.1 MbChr 2: 52.43 – 52.68 Mb
PubMed search[3][4]
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Function

This gene encodes a member of the beta subunit family, a protein in the voltage-dependent calcium channel complex. 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 described in this record 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. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized.[6]

Clinical significance

Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME).[6]

Interactions

CACNB4 has been shown to interact with Cav2.1.[7][8]

See also

References

Further reading

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