BLOC1S3 Rabbit pAb

$83.16

Weight 3 lbs
Dimensions 5 × 5 × 5 in
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SKU: Abclonal-A17281 Category:

Description

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.

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