Search for a gene
KCNQ1 - potassium voltage-gated channel subfamily Q member 1
- Synonym(s) : Jervell and Lange-Nielsen syndrome 1, JLNS1, KCNA8, Kv7.1, KVLQT1, LQT1
- Previous symbols and names : KCNA9, LQT, potassium channel, voltage gated KQT-like subfamily Q, member 1, potassium voltage-gated channel, KQT-like subfamily, member 1
- Type : gene with protein product
- Chromosomal location : 11p15.5-p15.4
- OMIM: 607542
- HGNC: 6294
- UniProtKB: P51787
- Genatlas: KCNQ1
- GenCC: KCNQ1
- Ensembl: ENSG00000053918
- IUPHAR-DB: 560
- Reactome: P51787
- LOVD: KCNQ1
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 - Disease-causing germline mutation(s) (gain of function) in Familial atrial fibrillation
ORPHA:334 - Disease-causing germline mutation(s) (gain of function) in Familial short QT syndrome
ORPHA:51083
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.