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Kcnc3

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Title: Kcnc3  
Author: World Heritage Encyclopedia
Language: English
Subject: Spinocerebellar ataxia type-13, Channelopathy, Erythrokeratodermia variabilis, Bart–Pumphrey syndrome, Clouston's hidrotic ectodermal dysplasia
Collection: Ion Channels
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Kcnc3

Potassium channel, voltage gated Shaw related subfamily C, member 3
Identifiers
Symbols  ; KSHIIID; KV3.3; SCA13
External IDs IUPHAR: GeneCards:
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

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]

Contents

  • Function 1
  • Clinical significance 2
  • See also 3
  • References 4
  • External links 5
  • Further reading 6

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

References

  1. ^
  2. ^
  3. ^
  4. ^
  5. ^

External links

  • GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 13

Further reading

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



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