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BLOC1S6

Official Full Name
biogenesis of lysosomal organelles complex 1 subunit 6
Organism
Homo sapiens
GeneID
26258
Background
The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
Synonyms
PA; HPS9; PLDN; BLOS6; PALLID;

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