XB-GENEPAGE-854021
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hps3
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HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
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(
Nomenclature history )
AI Protein Function
:
hps3 encodes a component of the BLOC‑2 complex that regulates biogenesis of lysosome‑related organelles and vesicle trafficking; the protein localizes to cytoplasmic puncta that co‑localize with early ...[+]
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Diseases:
Disease Ontology:
Hermansky-Pudlak syndrome 1
MIM:
HERMANSKY-PUDLAK SYNDROME 1; HPS1
External Links:
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