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Biogenesis of lysosome-related organelles complex 1 subunit 5 (BLOC1S5)
- Target
- BLOC1S5
- Molecular classification
- Other (specifically, subunit of the BLOC-1 protein complex)
01
Overview
Biogenesis of lysosome-related organelles complex 1 subunit 5 (BLOC1S5), also known as Muted, encodes a critical subunit of the BLOC-1 multisubunit protein complex, required for proper biogenesis of lysosome-related organelles such as melanosomes and platelet dense granules. BLOC1S5 facilitates the trafficking and sorting of essential cargo proteins within cells, with roles in neuronal and non-neuronal vesicle trafficking, endosomal transport, and specialized organelle assembly. Genetic deficiency of BLOC1S5 underlies Hermansky-Pudlak syndrome type 11, presenting with pigmentary dilution and platelet storage pool deficiency. The protein is important in multiple cell types for vesicular organization, but is not considered a direct receptor, enzyme, or therapeutic target at present.
- Other names
- BLOC-1 subunit 5MUTEDBLOS5HPS11protein Muted homologdJ303A1.3MUmuted homolog
02
Biological functions
Organelle biogenesis (lysosome-related organelles: melanosomes, platelet dense granules)Vesicular traffickingEndosomal transportCargo sortingSupport for synaptic vesicle function and neurite extension
03
Disease associations
Hermansky-Pudlak syndrome 11 (oculocutaneous albinism, bleeding diathesis, platelet granule deficiency)Neurodevelopmental disorders, including possible susceptibility to schizophreniaOther (altered pigmentation, impaired vesicle trafficking, broader vesicular transport defects)
04
Safety considerations
Dysfunction leads to disease risk, but direct therapeutic targeting and associated challenges are not currently reported for BLOC1S5
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