CACNG3

Calcium channel, voltage-dependent, gamma subunit 3, also known as CACNG3, is a human gene.cite web | title = Entrez Gene: CACNG3 calcium channel, voltage-dependent, gamma subunit 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10368| accessdate = ]

PBB_Summary
section_title =
summary_text = L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This protein is similar to the mouse stargazin protein, mutations in which have been associated with absence seizures, also known as petit-mal or spike-wave seizures. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family. This gene is a candidate gene for a familial infantile convulsive disorder with paroxysomal choreoathetosis.cite web | title = Entrez Gene: CACNG3 calcium channel, voltage-dependent, gamma subunit 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10368| accessdate = ]

ee also

* Voltage-dependent calcium channel

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Powers PA, Liu S, Hogan K, Gregg RG |title=Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location. |journal=J. Biol. Chem. |volume=268 |issue= 13 |pages= 9275–9 |year= 1993 |pmid= 8387489 |doi=
*cite journal | author=Black JL, Lennon VA |title=Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications. |journal=Mayo Clin. Proc. |volume=74 |issue= 4 |pages= 357–61 |year= 1999 |pmid= 10221464 |doi=
*cite journal | author=Loftus BJ, Kim UJ, Sneddon VP, "et al." |title=Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. |journal=Genomics |volume=60 |issue= 3 |pages= 295–308 |year= 1999 |pmid= 10493829 |doi= 10.1006/geno.1999.5927
*cite journal | author=Burgess DL, Davis CF, Gefrides LA, Noebels JL |title=Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication. |journal=Genome Res. |volume=9 |issue= 12 |pages= 1204–13 |year= 2000 |pmid= 10613843 |doi=
*cite journal | author=Burgess DL, Gefrides LA, Foreman PJ, Noebels JL |title=A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family. |journal=Genomics |volume=71 |issue= 3 |pages= 339–50 |year= 2001 |pmid= 11170751 |doi= 10.1006/geno.2000.6440
*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=Moss FJ, Dolphin AC, Clare JJ |title=Human neuronal stargazin-like proteins, gamma2, gamma3 and gamma4; an investigation of their specific localization in human brain and their influence on CaV2.1 voltage-dependent calcium channels expressed in Xenopus oocytes. |journal=BMC neuroscience |volume=4 |issue= |pages= 23 |year= 2004 |pmid= 14505496 |doi= 10.1186/1471-2202-4-23
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*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=Everett KV, Chioza B, Aicardi J, "et al." |title=Linkage and association analysis of CACNG3 in childhood absence epilepsy. |journal=Eur. J. Hum. Genet. |volume=15 |issue= 4 |pages= 463–72 |year= 2007 |pmid= 17264864 |doi= 10.1038/sj.ejhg.5201783

External links

*

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