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CALM3 Gene
Introduction
Calm3 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@clapham2007]
CALM3 [@zhlke2020]
Calmodulin 3
| | | [@saimi2002] |---|---| [@hudmon2002] | Symbol | CALM3 | [@greengard2001] | Full Name | Calmodulin 3 | [@lee2019] | Chromosome | 19q13.32 | [@zhang2012] | NCBI Gene ID | [808](https://www.ncbi.nlm.nih.gov/gene/808) | | OMIM | [114183](https://www.omim.org/entry/114183) | | Ensembl ID | [ENSG00000160072](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160072) | | UniProt ID | [P62158](https://www.uniprot.org/uniprot/P62158) | | Encoded Protein | [Calmodulin-3 Protein](/proteins/calm3-protein) | | Associated Diseases | [Alzheimer's Disease](/diseases/alzheimers-disease), [Parkinson's Disease](/diseases/parkinsons-disease), [Cardiomyopathy](/diseases/cardiomyopathy), [Myopathy](/diseases/myopathy) |
</div>
Overview
The CALM3 gene encodes Calmodulin-3 Protein, a Calmodulin (calcium-binding protein) that plays critical roles in Calcium sensor regulating numerous target proteins. This gene is implicated in the pathogenesis of several neurodegenerative diseases through its involvement in calcium signaling, muscle contraction, neuronal function.
Function
...
CALM3 Gene
Introduction
Calm3 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@clapham2007]
CALM3 [@zhlke2020]
Calmodulin 3
| | | [@saimi2002] |---|---| [@hudmon2002] | Symbol | CALM3 | [@greengard2001] | Full Name | Calmodulin 3 | [@lee2019] | Chromosome | 19q13.32 | [@zhang2012] | NCBI Gene ID | [808](https://www.ncbi.nlm.nih.gov/gene/808) | | OMIM | [114183](https://www.omim.org/entry/114183) | | Ensembl ID | [ENSG00000160072](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160072) | | UniProt ID | [P62158](https://www.uniprot.org/uniprot/P62158) | | Encoded Protein | [Calmodulin-3 Protein](/proteins/calm3-protein) | | Associated Diseases | [Alzheimer's Disease](/diseases/alzheimers-disease), [Parkinson's Disease](/diseases/parkinsons-disease), [Cardiomyopathy](/diseases/cardiomyopathy), [Myopathy](/diseases/myopathy) |
</div>
Overview
The CALM3 gene encodes Calmodulin-3 Protein, a Calmodulin (calcium-binding protein) that plays critical roles in Calcium sensor regulating numerous target proteins. This gene is implicated in the pathogenesis of several neurodegenerative diseases through its involvement in calcium signaling, muscle contraction, neuronal function.
Function
CALM3 encodes the third calmodulin isoform, which is primarily expressed in skeletal muscle and heart. While all three calmodulin genes encode identical proteins, CALM3 has a distinct expression pattern with high levels in muscle tissue. In skeletal muscle, calmodulin plays essential roles in excitation-contraction coupling by regulating ryanodine receptors (RyR) and other calcium-handling proteins. In the heart, CALM3 is crucial for cardiac contraction and rhythm regulation. In [neurons](/entities/neurons), calmodulin participates in synaptic plasticity, learning and memory, and various calcium-dependent signaling cascades.
In Alzheimer's disease and Parkinson's disease, calcium dysregulation is a key pathological feature. CALM3-mediated signaling may be altered due to disease-related changes in intracellular calcium. In cardiomyopathy and myopathy, mutations affecting calmodulin or its targets can disrupt calcium handling, leading to muscle dysfunction. CALM3 variants have been associated with certain forms of cardiac hypertrophy and heart failure.
Expression
CALM3 is highly expressed in skeletal muscle and heart, with lower expression in the brain and other tissues. In the brain, it is expressed in various regions including the [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), and cerebellum.
The study of Calm3 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
References
[Berridge MJ, Calcium signalling in health and disease (2021)](https://pubmed.ncbi.nlm.nih.gov/33213876/)
[Clapham DE, Calcium signaling (2007)](https://pubmed.ncbi.nlm.nih.gov/18083084/)
[Zühlke RD, Pitt GS, Deisseroth K, et al, Calmodulin: A versatile calcium sensor (2020)](https://pubmed.ncbi.nlm.nih.gov/32807946/)
[Saimi Y, Kung C, Calmodulin as an ion channel regulator (2002)](https://pubmed.ncbi.nlm.nih.gov/12172639/)
[Hudmon A, Schulman H, Structure-function of the CaMKII cascade (2002)](https://pubmed.ncbi.nlm.nih.gov/12045104/)
[Greengard P, The neurobiology of slow synaptic transmission (2001)](https://pubmed.ncbi.nlm.nih.gov/11691980/)
[Lee SY, Lee MG, Kang J, et al, Calmodulin in neurodegenerative diseases (2019)](https://pubmed.ncbi.nlm.nih.gov/31308891/)
[Zhang M, Abrams C, Wang L, et al, Calmodulin signaling in synaptic plasticity (2012)](https://pubmed.ncbi.nlm.nih.gov/22325205/)