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AP3B1 - adaptor related protein complex 3 subunit beta 1
- Synonym(s) : ADTB3A, beta-3A, HPS2
- Previous symbols and names : adaptor related protein complex 3 beta 1 subunit, adaptor-related protein complex 3, beta 1 subunit
- Type : gene with protein product
- Chromosomal location : 5q14.1
- OMIM: 603401
- HGNC: 566
- UniProtKB: O00203
- Genatlas: AP3B1
- GenCC: AP3B1
- Ensembl: ENSG00000132842
- IUPHAR-DB: -
- Reactome: O00203
- LOVD: AP3B1
Diseases list
- Disease-causing germline mutation(s) in Hermansky-Pudlak syndrome due to AP-3 deficiency
ORPHA:183678 
: AssessedAdditional information
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