The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/1000. Predicted molecular weight: 83 kDa.
FunctionMay regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.
Involvement in diseaseDefects in HPS6 are the cause of Hermansky-Pudlak syndrome type 6 (HPS6) [MIM:614075]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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.
Cellular localizationMicrosome membrane. Cytoplasm > cytosol. Early endosome membrane.