BLOC1S6 gene

biogenesis of lysosomal organelles complex 1 subunit 6

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Hermansky-Pudlak syndrome 9

From UniProt:

Hermansky-Pudlak syndrome 9 (HPS9): A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. [MIM:614171]

Cytogenetic Location: 15q21.1, which is the long (q) arm of chromosome 15 at position 21.1

Molecular Location: base pairs 45,587,123 to 45,609,716 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q21.1, which is the long (q) arm of chromosome 15 at position 21.1
  • BLOS6
  • HPS9
  • PA
  • PALLID
  • PLDN