biogenesis of organelles complex-1, subunit 5, muted
BLOS5; MU; MUTED
Amino Acid Labeled
[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
> 80% as determined by SDS-PAGE and Coomassie blue staining
Human HEK293 cells
Expression TrueORF Clone
MUTED Full-Length MS Protein Standard (NP_958437), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene.