HPS3 Antibody

This gene encodes a protein containing a potential
clathrin-binding motif, consensus dileucine signals, and
tyrosine-based sorting signals for targeting to vesicles of
lysosomal lineage. The encoded protein may play a role in organelle
biogenesis associated with melanosomes, platelet dense granules,
and lysosomes. Mutations in this gene are associated with
Hermansky-Pudlak syndrome type 3. Alternate splice variants exist,
but their full length sequence has not been determined. [provided
by RefSeq].1) Torres-Serrant, M., et al. J. Pediatr. Hematol. Oncol. 32(6):448-453(2010)

This HPS3 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 262-290 amino acids from the N-terminal region of human HPS3.

WB

Human