CACNB4

Calcium channel, voltage-dependent, beta 4 subunit, also known as CACNB4, is a human gene.cite web | title = Entrez Gene: CACNB4 calcium channel, voltage-dependent, beta 4 subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=785| accessdate = ]

PBB_Summary
section_title =
summary_text = 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. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized.cite web | title = Entrez Gene: CACNB4 calcium channel, voltage-dependent, beta 4 subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=785| accessdate = ]

ee also

* Voltage-dependent calcium channel

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Volsen SG, Day NC, McCormack AL, "et al." |title=The expression of voltage-dependent calcium channel beta subunits in human cerebellum. |journal=Neuroscience |volume=80 |issue= 1 |pages= 161–74 |year= 1997 |pmid= 9252229 |doi=
*cite journal | author=Lory P, Ophoff RA, Nahmias J |title=Towards a unified nomenclature describing voltage-gated calcium channel genes. |journal=Hum. Genet. |volume=100 |issue= 2 |pages= 149–50 |year= 1997 |pmid= 9254840 |doi=
*cite journal | author=Taviaux S, Williams ME, Harpold MM, "et al." |title=Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23. |journal=Hum. Genet. |volume=100 |issue= 2 |pages= 151–4 |year= 1997 |pmid= 9254841 |doi=
*cite journal | author=Walker D, Bichet D, Campbell KP, De Waard M |title=A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit. |journal=J. Biol. Chem. |volume=273 |issue= 4 |pages= 2361–7 |year= 1998 |pmid= 9442082 |doi=
*cite journal | author=Betz R, Leibiger B, Farnebo F, "et al." |title=Mapping of the human Ca2+ channel beta 4 subunit to 2q22-23 and its expression in developing mouse. |journal=Mamm. Genome |volume=9 |issue= 4 |pages= 310–1 |year= 1998 |pmid= 9530629 |doi=
*cite journal | author=Escayg A, Jones JM, Kearney JA, "et al." |title=Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. |journal=Genomics |volume=50 |issue= 1 |pages= 14–22 |year= 1999 |pmid= 9628818 |doi= 10.1006/geno.1998.5311
*cite journal | author=Day NC, Volsen SG, McCormack AL, "et al." |title=The expression of voltage-dependent calcium channel beta subunits in human hippocampus. |journal=Brain Res. Mol. Brain Res. |volume=60 |issue= 2 |pages= 259–69 |year= 1998 |pmid= 9757060 |doi=
*cite journal | author=Walker D, Bichet D, Geib S, "et al." |title=A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation. |journal=J. Biol. Chem. |volume=274 |issue= 18 |pages= 12383–90 |year= 1999 |pmid= 10212211 |doi=
*cite journal | author=Escayg A, De Waard M, Lee DD, "et al." |title=Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. |journal=Am. J. Hum. Genet. |volume=66 |issue= 5 |pages= 1531–9 |year= 2000 |pmid= 10762541 |doi=
*cite journal | author=Helton TD, Horne WA |title=Alternative splicing of the beta 4 subunit has alpha1 subunit subtype-specific effects on Ca2+ channel gating. |journal=J. Neurosci. |volume=22 |issue= 5 |pages= 1573–82 |year= 2002 |pmid= 11880487 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Finlin BS, Crump SM, Satin J, Andres DA |title=Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 24 |pages= 14469–74 |year= 2004 |pmid= 14623965 |doi= 10.1073/pnas.2437756100
*cite journal | author=Chen YH, Li MH, Zhang Y, "et al." |title=Structural basis of the alpha1-beta subunit interaction of voltage-gated Ca2+ channels. |journal=Nature |volume=429 |issue= 6992 |pages= 675–80 |year= 2004 |pmid= 15170217 |doi= 10.1038/nature02641
*cite journal | author=Suzuki Y, Yamashita R, Shirota M, "et al." |title=Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711–8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Vendel AC, Rithner CD, Lyons BA, Horne WA |title=Solution structure of the N-terminal A domain of the human voltage-gated Ca2+channel beta4a subunit. |journal=Protein Sci. |volume=15 |issue= 2 |pages= 378–83 |year= 2006 |pmid= 16385006 |doi= 10.1110/ps.051894506
*cite journal | author=Vendel AC, Terry MD, Striegel AR, "et al." |title=Alternative splicing of the voltage-gated Ca2+ channel beta4 subunit creates a uniquely folded N-terminal protein binding domain with cell-specific expression in the cerebellar cortex. |journal=J. Neurosci. |volume=26 |issue= 10 |pages= 2635–44 |year= 2006 |pmid= 16525042 |doi= 10.1523/JNEUROSCI.0067-06.2006
*cite journal | author=von Brevern M, Ta N, Shankar A, "et al." |title=Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. |journal=Headache |volume=46 |issue= 7 |pages= 1136–41 |year= 2006 |pmid= 16866717 |doi= 10.1111/j.1526-4610.2006.00504.x
*cite journal | author=Kobayashi T, Yamada Y, Fukao M, "et al." |title=The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit. |journal=Biochem. Biophys. Res. Commun. |volume=360 |issue= 3 |pages= 679–83 |year= 2007 |pmid= 17618603 |doi= 10.1016/j.bbrc.2007.06.112

External links

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PBB_Controls
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