Description
Product Characteristics:
Aliases: Biogenesis of lysosomal organelles complex 1, subunit 5, muted antibody, Biogenesis of lysosome related organelles complex 1 subunit 5 antibody, BLOC 1 subunit 5 antibody, BLOC1S5 antibody, BLOS5 antibody, MU antibody, MUTED antibody, Muted homolog antibody, Muted protein homolog antibody, MUTED_HUMAN antibody, Protein Muted homolog antibody
Target Information: 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. [provided by RefSeq, Dec 2010]