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AP4S1 - adaptor related protein complex 4 subunit sigma 1
- Synonym(s) : AP47B, CLA20, SPG52
- Previous symbols and names : adaptor related protein complex 4 sigma 1 subunit, adaptor-related protein complex 4, sigma 1 subunit
- Type : gene with protein product
- Chromosomal location : 14q12
- OMIM: 607243
- HGNC: 575
- UniProtKB: Q9Y587
- Genatlas: AP4S1
- GenCC: AP4S1
- Ensembl: ENSG00000100478
- IUPHAR-DB: -
- Reactome: Q9Y587
- LOVD: AP4S1
Diseases list
- Disease-causing germline mutation(s) in Severe intellectual disability and progressive spastic paraplegia
ORPHA:280763 
: AssessedAdditional information
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