| Gene Symbol | ALS2 |
| Full Name | Alsin |
| Chromosome | 2q33.1 |
| Protein Family | RCC1 (Regulator of Chromosome Condensation 1) superfamily, GEFs for small GTPases |
| Function | is a large 184 kDa protein encoded by the ALS2 gene that functions as a guanine nucleotide exchange factor (GEF) for small GTPases, primarily Rab5 and Rac1[@hadano2001][@yang2001]. |
| Primary Expression | Highest in motor neurons, brain cortex, hippocampus |
| Subcellular Localization | mitochondria in an ALS2-dependent manner, supporting a cytoprotective response. ALS2-deficient motor neurons show impair |
| Molecular Weight | 184 kDa |
| Amino Acids | 1 aa |
| UniProt ID | Q9UPN3 |
| NCBI Gene ID | 5824 |
| Ensembl ID | ENSG00000103307 |
| OMIM | 607352 |
| GeneCards | ALS2 |
| Human Protein Atlas | ALS2 |
| Associated Diseases | Als, Amyotrophic Lateral Sclerosis, Autosomal Recessive Ataxia, Dementia, frontotemporal dementia |
| Interactions | C9ORF72, C9ORF72 REPEAT EXPANSION, RAB5 |
| KG Connections | 131 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
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