| ELMO2 — Engulfment and cell motility protein 2 | |
|---|---|
| Symbol | ELMO2 |
| Full Name | Engulfment and cell motility protein 2 |
| Chromosome | 20q13.12 |
| NCBI Gene | 63916 |
| Ensembl | ENSG00000034053 |
| OMIM | 606421 |
| UniProt | Q9Y5V1 |
| Diseases | Parkinson's Disease, ALS |
| Expression | Brain, Spleen, Lung |
ELMO2 is a gene implicated in neurodegenerative diseases. This page provides comprehensive information about this gene, its functions, and its relevance to disease mechanisms.
ELMO2 functions as a scaffold protein that facilitates actin cytoskeleton remodeling and cell migration. It is involved in phagocytosis of apoptotic cells and plays roles in neuronal development and possibly in neurodegenerative diseases through its effects on microglial function.
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.
ELMO2 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:
ELMO2 is expressed in Brain, Spleen, Lung. 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 ELMO2 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.
ELMO2 has been implicated in Parkinson's disease pathogenesis through roles in dopaminergic neuron survival, protein aggregation, or mitochondrial dysfunction.
Depending on its specific function, ELMO2 may also play roles in other neurodegenerative conditions including ALS, Huntington's disease, and frontotemporal dementia.
Understanding the role of ELMO2 in neurodegeneration may lead to therapeutic strategies targeting: