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BL1S3 Rabbit Polyclonal Antibody, 20ul Vortex Mixer Gene Ontology (GO) annotations related

SKU: 791287589

4.6
PLN97.20 PLN136.20

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BL1S3 Rabbit Polyclonal Antibody, 20ul Vortex Mixer Gene Ontology (GO) annotations relatedThis 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.

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Description

Gene Ontology (GO) annotations related to this gene include transcription factor activity

In response to interferon (IFN)| this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G)| in which this protein acts as a transactivator| but lacks the ability to bind DNA directly

This gene encodes a protein with src homology domain 3 (SH3) patterns

TRAF proteins associate with| and mediate the signal transduction from members of the TNF receptor superfamily

The chondroitin sulfate proteoglycan NG2 is a type I membrane protein expressed by subpopulations of glia including oligodendroglial precursor cells and a variety of tumor cells

BL1S3 Rabbit Polyclonal Antibody, 20ul Vortex Mixer Gene Ontology (GO) annotations relatedThis 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.

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