Gene Symbol | BLOC1S6 |
Entrez Gene ID | 26258 |
Full Name | biogenesis of lysosomal organelles complex 1 subunit 6 |
Synonyms | BLOS6,HPS9,PA,PALLID,PLDN |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Hermansky-pudlak syndrome 9, 614171 (3) |