Biogenesis of lysosomal organelles complex 2 subunit 3 (HPS6)

Biogenesis of lysosomal organelles complex 2 subunit 3 (HPS6) is a critical peripheral membrane protein and a subunit of the BLOC-2 complex, which includes HPS3 and HPS5. This complex mediates intracellular trafficking and sorting of proteins to lysosome-related organelles such as melanosomes (pigment-containing organelles), platelet dense granules, and Weibel–Palade bodies (in endothelial cells). HPS6 acts as a cargo adapter for the dynein-dynactin motor complex, facilitating retrograde transport of lysosomes, and is essential for lysosome maturation and function. Mutations in HPS6 disrupt the function of BLOC-2, impairing the proper delivery of melanogenic enzymes (like tyrosinase and TYRP1) to melanosomes, leading to defective melanosome maturation, hypopigmentation, and bleeding diathesis characteristic of Hermansky-Pudlak syndrome type 6. HPS6 is encoded by a single-exon gene expressed ubiquitously and does not contain known functional domains found in classic receptors or enzymes. There are currently no described therapeutic drugs interacting directly with HPS6, nor is it a recognized molecular drug target.

Other names

BLOC-2 complex member HPS6Hermansky-Pudlak syndrome 6 proteinRuby-eye protein homologFLJ22501BLOC2S3RuHermansky-Pudlak syndrome-6 proteinHPS6 biogenesis of lysosomal organelles complex 2 subunit 3

Not applicable. HPS6 is not a known drug target, no mechanism of drug action reported.