| SPG30 |
|---|
| Full Name | SPG30 (Spastic Paraplegia 30 / SAT1) |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 550631 |
| OMIM | 610362 |
| UniProt ID | Q96EY8 |
| Category | Metabolic Enzyme |
The SPG30 gene encodes SPG30 (Spastic Paraplegia 30 / SAT1), a metabolic enzyme protein. It is involved in various cellular processes relevant to neurodegeneration.
SPG30 encodes the enzyme spermidine/spermine N1-acetyltransferase 1 (SSAT1), involved in polyamine metabolism. The polyamine pathway is crucial for cellular stress response and neuronal function. It is expressed in cerebral cortex, hippocampus, cerebellum, and spinal cord.
- Blair et al., SPG30: a novel locus for HSP. Brain. 2010
- Marti et al., Polyamine metabolism in HSP. Neurobiol Dis. 2019
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