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CACNB1

From Wikipedia, the free encyclopedia

CACNB1
Identifiers
AliasesCACNB1, CAB1, CACNLB1, CCHLB1, calcium voltage-gated channel auxiliary subunit beta 1
External IDsOMIM: 114207; MGI: 102522; HomoloGene: 20186; GeneCards: CACNB1; OMA:CACNB1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000723
NM_199247
NM_199248

RefSeq (protein)

NP_000714
NP_954855
NP_954856

Location (UCSC)Chr 17: 39.17 – 39.2 MbChr 11: 97.89 – 97.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.[5][6][7]

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.[7]

Mutations in CACNB1 are known to cause the following conditions: Malignant Hyperthermia; Congenital Myopathy; Alzheimer's Disease; Autism Spectrum Disorder.[8]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000067191Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020882Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "CACNB1 calcium channel, voltage-dependent, beta 1 subunit". Entrez Gene.
  8. ^ "CACNB1 Gene: Diseases". GeneCards.

Further reading

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