XB-GENEPAGE-941394
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hps4
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HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
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Nomenclature history )
AI Protein Function
:
hps4 encodes a BLOC‑2 complex component that participates in the biogenesis of lysosome‑related organelles, including melanosomes and pigment granules; the protein is cytoplasmic and associates with ea...[+]
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Diseases:
Disease Ontology:
Hermansky-Pudlak syndrome 1
MIM:
HERMANSKY-PUDLAK SYNDROME 1; HPS1
External Links:
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