Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency

Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency is related to albinism and bleeding disorder, platelet-type, 8. An important gene associated with Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency is BLOC1S3 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3), and among its related pathways/superpathways are Vesicle-mediated transport and trans-Golgi Network Vesicle Budding. Affiliated tissues include skin and eye, and related phenotypes are pigmentation and immune system