| Type | Description |
|---|---|
| Definition | potassium voltage-gated channel subfamily C member 3 |
| Date | Results | Publications |
|---|---|---|
| 2018-11-10 11:58:00 | 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. | 29949095 |
| 2017-09-23 10:51:00 | 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 | 28467418 |
| 2017-09-02 11:36:00 | 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 | 26442672 |
| 2016-09-03 10:58:00 | 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. | 26997484 |
| 2016-07-16 10:08:00 | The Kv channels, or at least Kv3.3, appear to be associated with cell differentiation | 26849432 |
| Type | IDs |
|---|---|
| Synonymous | KSHIIID, KV3.3, SCA13 |
| Gene |
UniProtKB-ID:
KCNC3_HUMAN
UniprotKB:
Q14003
UniParc:
UPI000013EA5D
EMBL:
AC008655,
AF055989,
Z11585
Ensembl:
ENSG00000131398
KO:
hsa:3748
|
| Nucleutide sequences |
EMBL-CDS:
AAC24118.1,
CAA77671.1
Ensembl_TRS:
ENST00000477616
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000434241
RefSeq:
NP_004968.2,
NP_001359234.1
|
| Others |
UniRef100:
UniRef100_Q14003
UniRef90:
UniRef90_Q14003
UniRef50:
UniRef50_Q14003
UniGene:
Hs.467146
CCDS:
CCDS12793.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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