CALM1 gene

calmodulin 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

From UniProt:

Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins 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 CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis.

From NCBI Gene:

  • Ventricular tachycardia, catecholaminergic polymorphic, 4
  • Long QT syndrome 14

From UniProt:

Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4): An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. [MIM:614916]

Long QT syndrome 14 (LQT14): A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. [MIM:616247]

Long QT syndrome 15 (LQT15): A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. [MIM:616249]

Cytogenetic Location: 14q32.11, which is the long (q) arm of chromosome 14 at position 32.11

Molecular Location: base pairs 90,396,983 to 90,408,275 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q32.11, which is the long (q) arm of chromosome 14 at position 32.11
  • CALML2
  • caM
  • CAMI
  • CPVT4
  • DD132
  • LQT14
  • PHKD