This gene encodes a protein that is a component of the
BLOC1 multi-subunit protein complex. This complex is necessary for
the biogenesis of specialized organelles of the endosomal-lysosomal
system, including platelet dense granules and melanosomes.
Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease
characterized by lysosomal storage defects, bleeding due to
platelet storage pool deficiency, and oculocutaneous albinism.1) Seshadri, S., et al. JAMA 303(18):1832-1840(2010)
Immunogen
This BLOC1S3 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 176-202 amino acids from the C-terminal region of human BLOC1S3.
Western blot analysis in A2058 cell line lysates (35ug/lane).
Application Notes
For WB starting dilution is: 1:1000
Additional Information
Form
Liquid
Storage Instructions
Store at 4˚C for three months and -20˚C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.