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Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
5 novel de novo CALM2 (show CALM1 Antibodies) mutations in association with long-QT syndrome and exertioninduced arrhythmias.(p.N98S, p.N98I, p.D134H, p.D132E, p.Q136P)
CaM-2-ext interacts biochemically with the C-terminus of Ca(v)2.3 similar to the classical CaM-2 as shown by co-immunoprecipitation
Human calmodulin (show CALM1 Antibodies) mutations disrupt calcium binding to the protein and are associated with cardiac arrest in early infancy.
The 1.35 A structure of Ca(2 (show CA2 Antibodies)+)-bound calmodulin (show CALM1 Antibodies) in complex with the DIII-IV linker of Na(V)1.5 suggests that Ca(2 (show CA2 Antibodies)+)/CaM (show CALM1 Antibodies) destabilizes binding of the inactivation gate to its receptor, biasing inactivation toward more depolarized potentials.
These findings suggest that the CALM2 (show CALM1 Antibodies) gene may be a genetic determinant of hip Osteoarthritis.
P53 (show TP53 Antibodies) protein stimulates CAMII gene expression in 041 cells.
These results suggest that calmodulin (show CALM1 Antibodies) plays a crucial role in the processes of Ca(2 (show CA2 Antibodies)+)-induced neuronal cell death and the possibility that the blockage of calmodulin (show CALM1 Antibodies) attenuates brain injury after cerebral ischemia.
Calmodulin mediates the control of a large number of enzymes, ion channels and other proteins by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) complex are a number of protein kinases and phosphatases. Together with CEP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis.
, phosphorylase kinase delta
, prepro-calmodulin 2