LE antibody, 2010205O06Rik antibody, AU040608 antibody, BLOC-3 antibody, C130020P05Rik antibody, le antibody, mKIAA1667 antibody, HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 antibody, HPS4 antibody, Hps4 antibody
背景
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants.,HPS4,BLOC3S2,LE,Signal Transduction,HPS4