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This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene.
1810074A19Rik; biogenesis of lysosomal organelles complex 1 subunit 5; biogenesis of lysosomal organelles complex-1, subunit 5, muted; biogenesis of lysosome-related organelles complex 1 subunit 5; biogenesis of organelles complex-1, subunit 5, muted; BLOC-1 subunit 5; Bloc1s5; BLOS5; MU; Muted; muted homolog; protein Muted homolog
150 µL
400 µL
50 µg
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