| Gene Symbol | Serpin Family A Member 1 (Alpha-1 Antitrypsin) |
| Chromosome | 14q32.13 |
| Function | is a 52 kDa glycoprotein synthesized primarily in the liver, with extrahepatic expression in astrocytes, microglia, and macrophages throughout the body. |
| Molecular Weight | 52 kDa |
| Amino Acids | 418 aa |
| UniProt ID | P01009 |
| NCBI Gene ID | 5265 |
| Ensembl ID | ENSG00000197249 |
| OMIM | 107400 |
| Alpha-Synuclein Interaction | A1AT binds to alpha-synuclein and inhibits its aggregation in vitro. This suggests a potential protective role in Lewy body formation. |
| Microglial Activation | PD patients show elevated CSF A1AT levels, correlating with disease severity. The protein appears to modulate microglial activation in response to alpha-synuclein pathology. [@marchi2021] |
| Neuroprotection | Exogenous A1AT administration protects dopaminergic neurons in toxin-based PD models, supporting a neuroprotective role. |
| Genetic Studies | Multiple studies have identified SERPINA1 polymorphisms as modifiers of ALS age of onset and survival. The PiZ allele shows protective effects in some populations. [@galli2022] |
| Neuroinflammation | A1AT's anti-inflammatory properties are relevant to the prominent neuroinflammation observed in ALS. The protein reduces motor neuron toxicity from activated microglia. |
| Associated Diseases | Alpha-1 Antitrypsin Deficiency |
| KG Connections | 8 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
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