gene 1,590 words KG: SPG48 2026-03-26
kind:genesection:genestopic:alzheimerstopic:parkinsonsstate:published
Contents

SPG48 (AP5Z1) Gene

🧬 Gene Info
Gene SymbolSPG48
Full NameSpastic Paraplegia 48 (AP5Z1)
Chromosome7p22.1
Protein TypeAdaptor Protein
Functionis a member of the adaptor protein (AP) family involved in intracellular vesicle trafficking, particularly in the endolysosomal system.
Primary ExpressionUbiquitous, high in brain
Subcellular LocalizationAP5Z1 and the AP-5 complex localize primarily to:
UniProt ID[Q9D7B6](https://www.uniprot.org/uniprotkb/Q9D7B6/entry)
GeneCardsSPG48
Human Protein AtlasSPG48
Associated Diseasesneurodegeneration
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph