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词条 KCNC3
释义

  1. Function

  2. Clinical significance

  3. See also

  4. References

  5. External links

  6. Further reading

{{Infobox_gene}}Potassium voltage-gated channel, Shaw-related subfamily, member 3 also known as KCNC3 or Kv3.3 is a protein that in humans is encoded by the KCNC3.[1]

Function

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and comprises four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes.[2][3][4]

Clinical significance

KCNC3 is associated with spinocerebellar ataxia type 13.[5]

See also

  • Voltage-gated potassium channel

References

1. ^{{cite journal | vauthors = Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ, Salkoff L, Gutman GA, Chandy KG | title = Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1 | journal = Genomics | volume = 12 | issue = 2 | pages = 190–6 | date = February 1992 | pmid = 1740329 | doi = 10.1016/0888-7543(92)90365-Y | url = }}
2. ^{{cite web | title = Entrez Gene: potassium voltage-gated channel| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3748| accessdate = }}
3. ^{{cite journal | vauthors = Haas M, Ward DC, Lee J, Roses AD, Clarke V, D'Eustachio P, Lau D, Vega-Saenz de Miera E, Rudy B | title = Localization of Shaw-related K+ channel genes on mouse and human chromosomes | journal = Mamm. Genome | volume = 4 | issue = 12 | pages = 711–5 | date = December 1993 | pmid = 8111118 | doi = 10.1007/BF00357794 | url = }}
4. ^{{cite journal | vauthors = Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stühmer W, Wang X | title = International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels | journal = Pharmacol. Rev. | volume = 57 | issue = 4 | pages = 473–508 | date = December 2005 | pmid = 16382104 | doi = 10.1124/pr.57.4.10 | url = | last11 = Wang | last10 = Stühmer | first11 = X | display-authors = 8 | first10 = W }}
5. ^{{cite journal | vauthors = Waters MF, Pulst SM | title = Sca13 | journal = Cerebellum | volume = 7 | issue = 2 | pages = 165–9 | year = 2008 | pmid = 18592334 | doi = 10.1007/s12311-008-0039-7 | url = }}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca13 GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 13]

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors = Wang D, Youngson C, Wong V, Yeger H, Dinauer MC, Vega-Saenz Miera E, Rudy B, Cutz E | title = NADPH-oxidase and a hydrogen peroxide-sensitive K+ channel may function as an oxygen sensor complex in airway chemoreceptors and small cell lung carcinoma cell lines | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 93 | issue = 23 | pages = 13182–7 | year = 1996 | pmid = 8917565 | pmc = 24067 | doi = 10.1073/pnas.93.23.13182 }}
  • {{cite journal | vauthors = Rae JL, Shepard AR | title = Kv3.3 potassium channels in lens epithelium and corneal endothelium | journal = Exp. Eye Res. | volume = 70 | issue = 3 | pages = 339–48 | year = 2000 | pmid = 10712820 | doi = 10.1006/exer.1999.0796 }}
  • {{cite journal | vauthors = Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM | title = Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes | journal = Nat. Genet. | volume = 38 | issue = 4 | pages = 447–51 | year = 2006 | pmid = 16501573 | doi = 10.1038/ng1758 }}
  • {{cite journal | vauthors = Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F | title = Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families | journal = Arch. Neurol. | volume = 61 | issue = 5 | pages = 727–33 | year = 2004 | pmid = 15148151 | doi = 10.1001/archneur.61.5.727 }}
  • {{cite journal | vauthors = Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, Camuzat A, Yuan Q, Schalling M, Dürr A, Brice A | title = Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation | journal = Am. J. Hum. Genet. | volume = 67 | issue = 1 | pages = 229–35 | year = 2000 | pmid = 10820125 | pmc = 1287081 | doi = 10.1086/302958 }}
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