Spinocerebellar ataxia 13; SCA13

Disease ID:877
Name:Spinocerebellar ataxia 13; SCA13
Associated with:1 target
Synonyms
Spinocerebellar ataxia
Database Links
Disease Ontology: DOID:1441
OMIM: 605259
Orphanet: ORPHA98768

Targets

Kv3.3
Role:  Spinocerebellar ataxia occurs with/without epilepsy and/or intellectual disability as a result of mutations in KCNC3. A variety of non-coding, missense, non-synonomous, dominant negative and nonsense mutations have been seen throughout the protein sequence, with genotype/phenotype correlations an ongoing focus.
References:  1-6

Ligands

No ligand related data available for Spinocerebellar ataxia 13; SCA13

References

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1. Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E et al.. (2015) Functional analysis helps to define KCNC3 mutational spectrum in dutch ataxia cases. PLoS ONE, 10 (3): e0116599. [PMID:25756792]

2. Figueroa KP, Minassian NA, Stevanin G, Waters M, Garibyan V, Forlani S, Strzelczyk A, Bürk K, Brice A, Dürr A et al.. (2010) KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum. Mutat., 31 (2): 191-6. [PMID:19953606]

3. Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM. (2011) Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS ONE, 6 (3): e17811. [PMID:21479265]

4. Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ, Salkoff L, Gutman GA, Chandy KG. (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]

5. Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH et al.. (1993) Spinocerebellar Ataxia Type 13. GeneReviews(®),. [PMID:20301404]

6. Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Müller U et al.. (2006) Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat. Genet., 38 (4): 447-51. [PMID:16501573]