| Gene Symbol | NUP54PROTEIN |
| Function | is an important component in the neurobiology of neurodegenerative diseases. |
| Primary Expression | all eukaryotic cells: |
| Subcellular Localization | - Nuclear envelope - Nuclear pore complexes - Cytoplasmic side of NPC ## Role i |
| Molecular Weight | 55 kDa |
| GeneCards | NUP54PROTEIN |
| Human Protein Atlas | NUP54PROTEIN |
| N-terminal domain | Interaction with NUP58 |
| Central coiled-coil domain | Structural scaffold |
| C-terminal FG repeats | Nucleocytoplasmic transport barrier |
| Molecular weight | ~55 kDa |
| Inheritance | Autosomal recessive |
| Mutations | Loss-of-function variants |
| Features | Ataxia, cerebellar degeneration |
| Mechanism | Impaired nucleocytoplasmic transport |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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