L02 cells were subjected to SDS PAGE followed by western blot with FNab03998(HPS1 antibody) at dilution of 1:800
Immunohistochemistry of paraffin-embedded rat kidney using FNab03998(HPS1 antibody) at dilution of 1:100
Background
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22.