Recombinant Human Potassium voltage-gated channel subfamily C member 3 (KCNC3), partial

1. Study expanded the genotype-phenotype-pathophysiology repertoire of SCA13 by addition of a causative KCNC3 mutation, p.Pro583_Pro585del, its associated phenotype of profound spasticity, and the decreased inactivation rate of the mutant channel. PMID: 29949095
2. results therefore confirm the KCNC3R423H allele as causative for SCA13, through a dominant negative effect on KCNC3WT and links with EGFR that account for dominant inheritance, congenital onset, and disease pathology PMID: 28467418
3. This review covers the localization and physiological function of Kv3.3 in the central nervous system and how the normal function of the channel is altered by the disease-causing mutations PMID: 26442672
4. Kv3.3 regulates Arp2/3-dependent cortical actin nucleation mediated by Hax-1; resulting cortical actin structures interact with the channel's gating machinery to slow its inactivation rate during sustained membrane depolarizations; a mutation that leads to late-onset spinocerebellar ataxia type 13. PMID: 26997484
5. The Kv channels, or at least Kv3.3, appear to be associated with cell differentiation PMID: 26849432
6. Functional and in silico analysis identified at least one novel pathogenic mutation in KCNC3 that cause Spinocerebellar ataxia type 13 (SCA13) and two additionally potential ones. PMID: 25756792
7. investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2 PMID: 25981959
8. These results are specific to the KCNC3(R420H) allele and provide new insight into the molecular basis of disease manifestation in SCA13. PMID: 25152487
9. Data indicate that an autosomal dominant mutation in the gene encoding Kv3.3 has been identified in a large Filipino kindred manifesting as spinocerebellar ataxia type 13 (SCA13). PMID: 24116147
10. no disease-related KCNC3 mutation was identified, suggesting that spinocerebellar ataxia type 13 is a rare form of SCA in mainland China PMID: 23293936
11. This study presented the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis. PMID: 23912307
12. Data suggest that mutant forms of Kv3.3 (as seem in subjects with spinocerebellar ataxia-13) are unstable, are degraded through proteasomes at faster rates, and can be stabilized by a chemical chaperone. PMID: 23734863
13. Kv3.3 gating contributes significantly to an early age of onset in spinocerebellar ataxia type 13 PMID: 22289912
14. The KCNC3 mutation casued Spinocerebellar ataxia 13. PMID: 21827913
15. The spinocerebellar ataxia type 13 mutation of the KV3.3 gene specifically suppresses the excitability of Kv3.3-expressing, fast-spiking neurons in zebrafish PMID: 21543613
16. Mutations in KCNC3 are a rare cause of spinocerebellar ataxia with a frequency of less than 1%. PMID: 21479265
17. The p.Arg420His mutation, which results in a nonfunctional channel subunit, was recurrent and associated with late-onset progressive ataxia. PMID: 19953606
18. results establish a role for KCNC3 in phenotypes ranging from developmental disorders to adult-onset neurodegeneration and suggest voltage-gated K+ channels as candidates for additional neurodegenerative diseases PMID: 16501573
19. Mutations in the voltage-gated potassium channel KCNC3 are causative for spinocerebellar ataxia 13. PMID: 18592334

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HGNC: 6235

OMIM: 176264

KEGG: hsa:3748

STRING: 9606.ENSP00000434241

UniGene: Hs.467146