BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 26258)
Source: NCBI Gene (ID 26258)
Symbol: BLOC1S6
Full name: biogenesis of lysosomal organelles complex 1 subunit 6
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: BLOS6; HPS9; PA; PALLID; PLDN
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]
Expression: Ubiquitous expression in thyroid (RPKM 21.0), prostate (RPKM 17.5) and 25 other tissues
Orthologs: mouse
Gene size: 22594bp
Exon count: 7