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

SKU: 791287589

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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

a central proline/serine rich (PS) domain

neutrophils or macrophages

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

An important paralog of RNF144B is RNF19A

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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