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KCNC3

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Identifiers
SymbolsKCNC3 ; KSHIIID; KV3.3; SCA13
External IDsOMIM176264 MGI96669 HomoloGene3650 IUPHAR: 550 GeneCards: KCNC3 Gene
Orthologs
SpeciesHumanMouse
Entrez374816504
EnsemblENSG00000131398ENSMUSG00000062785
UniProtQ14003Q63959
RefSeq (mRNA)NM_004977NM_008422
RefSeq (protein)NP_004968NP_032448
Location (UCSC)Chr 19:
50.82 – 50.84 Mb
Chr 7:
44.59 – 44.6 Mb
PubMed search[1][2]

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

External links

References

  1. ^ Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ et al. (February 1992). "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". Genomics 12 (2): 190–6. PMID 1740329. doi:10.1016/0888-7543(92)90365-Y. 
  2. ^ "Entrez Gene: potassium voltage-gated channel". 
  3. ^ Haas M, Ward DC, Lee J, Roses AD, Clarke V, D'Eustachio P et al. (December 1993). "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome 4 (12): 711–5. PMID 8111118. doi:10.1007/BF00357794. 
  4. ^ Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B et al. (December 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. PMID 16382104. doi:10.1124/pr.57.4.10. 
  5. ^ Waters MF, Pulst SM (2008). "Sca13". Cerebellum 7 (2): 165–9. PMID 18592334. doi:10.1007/s12311-008-0039-7. 

Further reading

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

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