KCNA1 Chromosome 12
Potassium voltage-gated channel subfamily A member 1
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What This Gene Does
This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
12p13.32
Ensembl
ENSG00000111262
Associated Conditions (9)
See cases
Episodic ataxia type 1
Inborn genetic diseases
KCNA1-related disorder
Epileptic encephalopathy
Generalized epilepsy-paroxysmal dyskinesia syndrome
Myokymia 1 with hypomagnesemia
Myokymia 1
Episodic kinesigenic dyskinesia
Key Variants
RS1025376971
Conflicting classifications of pathogenicity
See cases, Episodic ataxia type 1, See cases
Health Risk
RS104894349
Conflicting classifications of pathogenicity
Episodic ataxia type 1, Inborn genetic diseases, Episodic ataxia type 1
Health Risk
RS104894356
Conflicting classifications of pathogenicity
Episodic ataxia type 1, Episodic ataxia type 1, Episodic ataxia type 1
Health Risk
RS1135401950
Conflicting classifications of pathogenicity
Episodic ataxia type 1, Episodic ataxia type 1
Health Risk
RS1179635654
Conflicting classifications of pathogenicity
Episodic ataxia type 1, Episodic ataxia type 1
Health Risk
RS1264032724
Conflicting classifications of pathogenicity
Episodic ataxia type 1, Episodic ataxia type 1
Health Risk
RS147828649
Conflicting classifications of pathogenicity
Episodic ataxia type 1, KCNA1-related disorder, Episodic ataxia type 1
Health Risk
RS149959487
Conflicting classifications of pathogenicity
Episodic ataxia type 1, Inborn genetic diseases, KCNA1-related disorder
Health Risk
RS1565433583
Conflicting classifications of pathogenicity
Episodic ataxia type 1, Episodic ataxia type 1
Health Risk
RS201504073
Conflicting classifications of pathogenicity
Episodic ataxia type 1, Episodic ataxia type 1
Health Risk
RS2137673966
Conflicting classifications of pathogenicity
Episodic ataxia type 1, Episodic ataxia type 1
Health Risk
RS2229000
Conflicting classifications of pathogenicity
Episodic ataxia type 1, Episodic ataxia type 1
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1025376971 | Health Risk | Conflicting classifications of pathogenicity | See cases, Episodic ataxia type 1, See cases |
| RS104894349 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Inborn genetic diseases, Episodic ataxia type 1 |
| RS104894356 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1, Episodic ataxia type 1 |
| RS1135401950 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS1179635654 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS1264032724 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS147828649 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, KCNA1-related disorder, Episodic ataxia type 1 |
| RS149959487 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Inborn genetic diseases, KCNA1-related disorder |
| RS1565433583 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS201504073 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS2137673966 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS2229000 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS2497353413 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS535813845 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS536746031 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS775789299 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Inborn genetic diseases, Episodic ataxia type 1 |
| RS797044929 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Episodic ataxia type 1, Inborn genetic diseases |
| RS886042316 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS1085308020 | Health Risk | Likely pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS1555085761 | Health Risk | Likely pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS1555085798 | Health Risk | Likely pathogenic | Episodic ataxia type 1, Epileptic encephalopathy, Episodic ataxia type 1 |
| RS1947358808 | Health Risk | Likely pathogenic | Inborn genetic diseases, Episodic ataxia type 1, Inborn genetic diseases |
| RS2137673691 | Health Risk | Likely pathogenic | — |
| RS2137673957 | Health Risk | Likely pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2497353297 | Health Risk | Likely pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS2497353491 | Health Risk | Likely pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS2497353507 | Health Risk | Likely pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS2497353523 | Health Risk | Likely pathogenic | Episodic ataxia type 1, Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894348 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894352 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894353 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894354 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894355 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894357 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894358 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS121918067 | Health Risk | Pathogenic | Myokymia 1 with hypomagnesemia, Myokymia 1 with hypomagnesemia |
| RS1555085786 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1, Episodic ataxia type 1 |
| RS1591627924 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS2137673633 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS2137673640 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS2497353115 | Health Risk | Pathogenic | — |
| RS2497353747 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS267607195 | Health Risk | Pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS28933381 | Health Risk | Pathogenic | Myokymia 1, Myokymia 1 |
| RS28933382 | Health Risk | Pathogenic | Myokymia 1, Myokymia 1 |
| RS28933383 | Health Risk | Pathogenic | Episodic ataxia type 1, Myokymia 1, Episodic ataxia type 1 |
| RS113994120 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Episodic ataxia type 1, Inborn genetic diseases |
| RS2137673584 | Health Risk | Pathogenic/Likely pathogenic | Episodic ataxia type 1, Episodic ataxia type 1 |
| RS2137673958 | Health Risk | Pathogenic/Likely pathogenic | Episodic kinesigenic dyskinesia, Episodic ataxia type 1, Episodic kinesigenic dyskinesia |