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EA1
Chr 12ADpotassium voltage-gated channel subfamily A member 1
Also known as: AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1
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]
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/EA1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EA1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
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Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGPreoperative Fasting and the Gut Microbiome Before Hip Replacement
RECRUITINGExternal Resources
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