HPS-1 Monoclonal Antibody, 50ul Metabolic enzymes tool compounds Multiple transcript variants encoding different
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HPS-1 Monoclonal Antibody, 50ul Metabolic enzymes tool compounds Multiple transcript variants encoding differentThis gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome related organelles complex (BLOC) 3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene
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