Disease-gene associations mined from literature

Literature associating CALM1 and long QT syndrome 2

CALM1 [ENSP00000349467]

Calmodulin 1 (phosphorylase kinase, delta); Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis. Mediates calcium-dependent inactivation of CACNA1C. Positively regulates calcium-activated potassium channel activity of KCNN2.

Synonyms:  CALM1,  CALM1p,  hCALM1,  CALM2,  CALM3 ...

Linkouts:  STRING  Pharos