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Overview
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Calculated MW: 58 kDa/76 kDa/78 kDa
Observed MW: 115 kDaPlease contact us at for specific academic pricing.
Background
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants.
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