This gene encodes a component of BLOC-1 (biogenesis ofnlysosome-related organelles complex 1). Components of this complexnare involved in the biogenesis of organelles such as melanosomesnand platelet-dense granules. A mouse model for Hermansky-PudlaknSyndrome is mutated in the murine version of this gene. Alternativensplicing results in multiple transcript variants. Read-throughntranscription exists between this gene and the upstream EEF1E1n(eukaryotic translation elongation factor 1 epsilon 1) gene, asnwell as with the downstream TXNDC5 (thioredoxin domain containingn5) gene.
应用类型
WB,IHC
免疫原
This MUTED antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 40-68 amino acids from the Central region of human MUTED.
