Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1gene.[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]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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. PMID8381767.
^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. PMID8395940.
Williams ME, Feldman DH, McCue AF, Brenner R, Velicelebi G, Ellis SB, et al. (January 1992). "Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype". Neuron. 8 (1): 71–84. doi:10.1016/0896-6273(92)90109-Q. PMID1309651. S2CID39341712.
Fukuda K, Kaneko S, Yada N, Kikuwaka M, Akaike A, Satoh M (October 1996). "Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes". Neuroscience Letters. 217 (1): 13–16. doi:10.1016/0304-3940(96)13055-X. PMID8905728. S2CID40498858.
Lie AA, Blümcke I, Volsen SG, Wiestler OD, Elger CE, Beck H (1999). "Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy". Neuroscience. 93 (2): 449–456. doi:10.1016/S0306-4522(99)00162-1. PMID10465427. S2CID12890647.
Hogan K, Greg RG, Powers PA (December 1999). "Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels". Neuroscience Letters. 277 (2): 111–114. doi:10.1016/S0304-3940(99)00851-4. PMID10624822. S2CID32210526.