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HPS4 encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC).
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BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38.
These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia.
These results suggest that the HPS4 gene confers a susceptibility to schizophrenia.
Seven mutations (six previously unreported) were described in the HPS1 (显示 HPS1 ELISA试剂盒), HPS4, and HPS5 (显示 HPS5 ELISA试剂盒) genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.
Data show that recombinant HPS1-HPS4 produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 effector in the biogenesis of lysosome-related organelles.
identification of mutations which establish HPS4 as important in Herman-Pudlak syndrome, and identification of mouse homolog light-ear gene
identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
Hermansky-Pudlak syndrome type 4 (HPS-4) patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis.
observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1 (显示 HPS1 ELISA试剂盒)) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles
HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3)
VAMP7 mediates fusion of BLOC-1-dependent transport carriers with melanosomes, illuminate SNARE recycling from melanosomes as a critical BLOC-3-dependent step.
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.
Hermansky-Pudlak syndrome 4 protein
, light-ear protein homolog
, Hermansky-Pudlak syndrome 4 protein homolog
, light ear
, light-ear protein
, Hermansky-Pudlak syndrome 4 homolog