Biology:KCNC3
 Generic protein structure example |
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
References
- ↑ "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. February 1992. doi:10.1016/0888-7543(92)90365-Y. PMID 1740329.
- ↑ "Entrez Gene: potassium voltage-gated channel". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3748.
- ↑ "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome 4 (12): 711–5. December 1993. doi:10.1007/BF00357794. PMID 8111118.
- ↑ "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. December 2005. doi:10.1124/pr.57.4.10. PMID 16382104.
- ↑ "Sca13". Cerebellum 7 (2): 165–9. 2008. doi:10.1007/s12311-008-0039-7. PMID 18592334.
External links
Further reading
- "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". Proc. Natl. Acad. Sci. U.S.A. 93 (23): 13182–7. 1996. doi:10.1073/pnas.93.23.13182. PMID 8917565. Bibcode: 1996PNAS...9313182W.
- "Kv3.3 potassium channels in lens epithelium and corneal endothelium". Exp. Eye Res. 70 (3): 339–48. 2000. doi:10.1006/exer.1999.0796. PMID 10712820.
- "Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes". Nat. Genet. 38 (4): 447–51. 2006. doi:10.1038/ng1758. PMID 16501573.
- "Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families". Arch. Neurol. 61 (5): 727–33. 2004. doi:10.1001/archneur.61.5.727. PMID 15148151.
- "Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation". Am. J. Hum. Genet. 67 (1): 229–35. 2000. doi:10.1086/302958. PMID 10820125.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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