| CASR — Calcium-Sensing Receptor | |
|---|---|
| Symbol | CASR |
| Full Name | Calcium-Sensing Receptor |
| Chromosome | 3q21.1 |
| NCBI Gene | 846 |
| Ensembl | ENSG00000036828 |
| OMIM | 601199 |
| UniProt | Q9UII2 |
| Diseases | Alzheimer's Disease, Parkinson's Disease |
| Expression | Brain (cerebellum, hippocampus), Parathyroid, Kidney |
CASR is a gene implicated in neurodegenerative diseases. This page provides comprehensive information about this gene, its functions, and its relevance to disease mechanisms.
The Calcium-Sensing Receptor (CaSR) is a G protein-coupled receptor that detects extracellular calcium levels and plays crucial roles in calcium homeostasis. In the brain, CaSR is involved in synaptic plasticity, neuronal excitability, and has been implicated in neurodegenerative processes.
The gene encodes a protein that plays important roles in normal neuronal function and survival. Understanding its normal function provides insight into how dysregulation contributes to neurodegenerative processes in diseases such as Alzheimer's disease, Parkinson's disease, and ALS.
CASR encodes a protein involved in various cellular processes relevant to neuronal health. The protein localizes to specific cellular compartments and participates in signaling pathways that regulate:
CASR is expressed in Brain (cerebellum, hippocampus), Parathyroid, Kidney. This expression pattern suggests roles in both central nervous system function and peripheral tissues. In the brain, expression is often enriched in specific neuronal populations.
Alterations in CASR expression or function have been reported in Alzheimer's disease brain tissue. Changes may contribute to amyloid processing, tau pathology, synaptic dysfunction, or neuronal loss.
CASR has been implicated in Parkinson's disease pathogenesis through roles in dopaminergic neuron survival, protein aggregation, or mitochondrial dysfunction.
Depending on its specific function, CASR may also play roles in other neurodegenerative conditions including ALS, Huntington's disease, and frontotemporal dementia.
Understanding the role of CASR in neurodegeneration may lead to therapeutic strategies targeting: