| Gene Symbol | SPG48 |
| Full Name | Spastic Paraplegia 48 (AP5Z1) |
| Chromosome | 7p22.1 |
| Protein Type | Adaptor Protein |
| Function | is a member of the adaptor protein (AP) family involved in intracellular vesicle trafficking, particularly in the endolysosomal system. |
| Primary Expression | Ubiquitous, high in brain |
| Subcellular Localization | AP5Z1 and the AP-5 complex localize primarily to: |
| UniProt ID | [Q9D7B6](https://www.uniprot.org/uniprotkb/Q9D7B6/entry) |
| GeneCards | SPG48 |
| Human Protein Atlas | SPG48 |
| Lobe region | Mediates interaction with other complex subunits |
| Linker region | Connects the lobe to the clathrin-binding domain |
| Clathrin box motif | Enables interaction with clathrin triskelions |
| Sorting motif-binding pocket | Recognizes cargo sorting signals (YXXΦ and [DE]XXXL[LI]) |
| Late endosomes | Major site of function |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!