SUTAL antibody, HPS3 antibody, coa antibody, HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 antibody, HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 L homeolog antibody, Hermansky-Pudlak syndrome 3 antibody, HPS3 antibody, hps3.L antibody, Hps3 antibody
背景
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]