Gene: CALM3

Alternate names for this Gene: CALM|CAM1|CAM2|CAMB|CPVT6|CaM|CaMIII|HEL-S-72|LQT16|PHKD|PHKD3

Gene Summary: This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: calmodulin 3

Type of Gene: protein-coding

rs1060502607 in CALM3 gene and Romano-Ward Syndrome PMID 23388215 2013 Calmodulin mutations associated with recurrent cardiac arrest in infants.

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 26969752 2016 Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.

PMID 24958779 2014 Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.

PMID 24563457 2014 Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.