BLOC1S6( Human )

Entrez Gene 26258 Entrez Gene 26258
biogenesis of lysosomal organelles complex 1 subunit 6

Alias

BLOS6|HPS9|PALLID|PLDN

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].

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