CALM2
CALM2
CALM2 is a gene that encodes for the protein Calmodulin 2. Calmodulin 2 is a calcium-binding protein that plays a crucial role in various cellular processes. It is a member of the calmodulin family of proteins, which are involved in regulating the activity of numerous enzymes and ion channels in response to changes in intracellular calcium levels.
Structure
The CALM2 gene is located on chromosome 2 in humans and consists of several exons that encode for the calmodulin 2 protein. Calmodulin 2 is composed of 149 amino acids and has four calcium-binding domains that allow it to bind to and regulate the activity of target proteins.
Function
Calmodulin 2 functions as a key regulator of calcium signaling in cells. When intracellular calcium levels rise, calmodulin 2 binds calcium ions and undergoes a conformational change, enabling it to interact with and modulate the activity of various target proteins. These target proteins include kinases, phosphatases, ion channels, and transcription factors, among others.
Role in Disease
Mutations in the CALM2 gene have been associated with various diseases, including cardiac arrhythmias and neurodevelopmental disorders. Dysregulation of calmodulin 2 function can disrupt calcium signaling pathways, leading to abnormal cellular processes and disease states.
Clinical Significance
Understanding the role of CALM2 and calmodulin 2 in cellular signaling pathways is essential for developing targeted therapies for diseases associated with calcium dysregulation. Research into the function of calmodulin 2 continues to provide insights into its potential as a therapeutic target for various conditions.
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Contributors: Prab R. Tumpati, MD