LRBA Polyclonal Antibody, 20ul Gloves Mutations in gene products that

Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome

and play a crucial role in controlling intracellular zinc levels

The protein encoded by this gene is most closely related to HUS1

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Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that map to chromosome 8

LRBA Polyclonal Antibody, 20ul Gloves Mutations in gene products thatThe protein encoded by this gene is a member of the WDL BEACH WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder