HPS4 抗体
(Hermansky-Pudlak Syndrome 4 (HPS4))
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. [provided by RefSeq, Aug 2012].
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Aliases for HPS4 抗体
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 (HPS4) 抗体HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 (Hps4) 抗体
2010205O06Rik 抗体
AU040608 抗体
BLOC-3 抗体
C130020P05Rik 抗体
LE 抗体
le 抗体
mKIAA1667 抗体
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