Gene: CALM1
Alternate names for this Gene: CALML2|CAM2|CAM3|CAMB|CAMC|CAMI|CAMIII|CPVT4|DD132|LQT14|PHKD|caM
Gene Summary: This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.
Gene is located in Chromosome: 14
Location in Chromosome : 14q32.11
Description of this Gene: calmodulin 1
Type of Gene: protein-coding
rs267607277 in
CALM1 gene and
LONG QT SYNDROME 14
PMID 23040497 2012 Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
PMID 26309258 2015 Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release.
PMID 24563457 2014 Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.
PMID 25557436 2015 Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes.
PMID 24816216 2014 Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.
rs267607276 in
CALM1 gene and
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
PMID 23040497 2012 Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
PMID 26164367 2015 Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.
PMID 27516456 2016 Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.
PMID 27165696 2016 Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current.
PMID 24816216 2014 Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.
PMID 24563457 2014 Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.
PMID 25557436 2015 Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes.
PMID 26309258 2015 Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release.