LE antikoerper, 2010205O06Rik antikoerper, AU040608 antikoerper, BLOC-3 antikoerper, C130020P05Rik antikoerper, le antikoerper, mKIAA1667 antikoerper, HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 antikoerper, HPS4 antikoerper, Hps4 antikoerper
Hintergrund
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