KCNC3

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Potassium voltage-gated channel, Shaw-related subfamily, member 3
Identifiers
Symbols KCNC3 ; KSHIIID; KV3.3; SCA13
External IDs OMIM176264 MGI96669 HomoloGene3650 IUPHAR: Kv3.3 GeneCards: KCNC3 Gene
Orthologs
Species Human Mouse
Entrez 3748 16504
Ensembl ENSG00000131398 ENSMUSG00000062785
UniProt Q14003 Q63959
RefSeq (mRNA) NM_004977 NM_008422
RefSeq (protein) NP_004968 NP_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[edit]

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[edit]

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

See also[edit]

External links[edit]

References[edit]

  1. ^ Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ, Salkoff L, Gutman GA, Chandy KG (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. doi:10.1016/0888-7543(92)90365-Y. PMID 1740329. 
  2. ^ "Entrez Gene: potassium voltage-gated channel". 
  3. ^ Haas M, Ward DC, Lee J, Roses AD, Clarke V, Eustachio P, Lau D, Vega-Saenz de Miera E, D' Rudy B (December 1993). "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome 4 (12): 711–5. doi:10.1007/BF00357794. PMID 8111118. 
  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. doi:10.1124/pr.57.4.10. PMID 16382104. 
  5. ^ Waters MF, Pulst SM (2008). "Sca13". Cerebellum 7 (2): 165–9. doi:10.1007/s12311-008-0039-7. PMID 18592334. 

Further reading[edit]

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