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KCNE1 - potassium voltage-gated channel subfamily E regulatory subunit 1
- Synonym(s) : ISK, IsK, Jervell and Lange-Nielsen syndrome 2, JLNS2, Long QT syndrome 5, LQT5, minK
- Previous symbols and names : potassium channel, voltage gated subfamily E regulatory beta subunit 1, potassium voltage-gated channel, Isk-related family, member 1
- Type : gene with protein product
- Chromosomal location : 21q22.12
- OMIM: 176261
- HGNC: 6240
- UniProtKB: P15382
- Genatlas: KCNE1
- GenCC: KCNE1
- Ensembl: ENSG00000180509
- IUPHAR-DB: -
- Reactome: P15382
- LOVD: KCNE1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Jervell and Lange-Nielsen syndrome
ORPHA:90647 
- Disease-causing germline mutation(s) (loss of function) in Romano-Ward syndrome
ORPHA:101016 - Candidate gene tested in Familial atrial fibrillation
ORPHA:334
: AssessedAdditional information
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