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CACNB1
Protein-coding gene in the species Homo sapiens

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the 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.

Mutations in CACNB1 are known to cause the following conditions: Malignant Hyperthermia; Congenital Myopathy; Alzheimer's Disease; Autism Spectrum Disorder.

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Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

References

  1. Gregg RG, Powers PA, Hogan K (January 1993). "Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping". Genomics. 15 (1): 185–187. doi:10.1006/geno.1993.1029. PMID 8381767. /wiki/Doi_(identifier)

  2. Iles DE, Segers B, Sengers RC, Monsieurs K, Heytens L, Halsall PJ, et al. (July 1993). "Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility". Human Molecular Genetics. 2 (7): 863–868. doi:10.1093/hmg/2.7.863. PMID 8395940. /wiki/Doi_(identifier)

  3. "CACNB1 calcium channel, voltage-dependent, beta 1 subunit". Entrez Gene. https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=782

  4. "CACNB1 calcium channel, voltage-dependent, beta 1 subunit". Entrez Gene. https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=782

  5. "CACNB1 Gene: Diseases". GeneCards. https://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB1#diseases