| SPG48 |
|---|
| Full Name | SPG48 (Spastic Paraplegia 48 / AP5Z1) |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 84069 |
| OMIM | 613653 |
| UniProt ID | Q9D7B6 |
| Category | Endolysosomal Traffic |
The SPG48 gene encodes SPG48 (Spastic Paraplegia 48 / AP5Z1), a endolysosomal traffic protein. It is involved in various cellular processes relevant to neurodegeneration.
SPG48 encodes AP5Z1, a subunit of the AP-5 complex involved in endolysosomal trafficking. The AP-5 complex plays a role in recycling proteins from endosomes to the trans-Golgi network.
- Słabicki et al., AP5Z1 mutations cause hereditary spastic paraplegia. Am J Hum Genet. 2010
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