BLOC1S5
Function
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 (PubMed:32565547). 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. Plays a role in intracellular vesicle trafficking.
Involvement in disease
Hermansky-Pudlak syndrome 11
HPS11
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the BLOC1S5 family.
Alternative names
MUTED, BLOC1S5, Biogenesis of lysosome-related organelles complex 1 subunit 5, BLOC-1 subunit 5, Protein Muted homolog