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BLOC1S3 encodes a protein that is a component of the BLOC1 multi-subunit protein complex.
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Human Polyclonal BLOC1S3 Primary Antibody für WB - ABIN1881114
Seshadri, Fitzpatrick, Ikram, DeStefano, Gudnason, Boada, Bis, Smith, Carassquillo, Lambert, Harold, Schrijvers, Ramirez-Lorca, Debette, Longstreth, Janssens: Genome-wide analysis of genetic loci associated with Alzheimer disease. in JAMA : the journal of the American Medical Association 2010
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A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).
Mutations in the human genes encoding Snapin (zeige SNAPIN Antikörper) and the BLOS proteins could underlie novel forms of Hermansky-Pudlak syndrome as seen in mouse models
results suggest that BLOC-3 function is required, directly or indirectly, for optimal attachment of late endocytic organelles to microtubule-dependent motors
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism.
BLOC-1 subunit 3
, biogenesis of lysosome-related organelles complex 1 subunit 3
, biogenesis of lysosome-related organelles complex-1, subunit 3
, reduced pigmentation, mouse, homolog of
, biogenesis of lysosome-related organelles complex 1, subunit 3
, Bloc-1 complex component
, Bloc1 subunit 3
, reduced pigmentation protein