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Immunogen sequence: MSGGGTETP VGCEAAPGGG SKKRDSLGTA GSAHLIIKDL GEIHSRLLDH RPVIQGETRY FVKEFEEKRG LREMRVLENL KNMIHETNEH TLPKCRDTMR DSLSQVLQR (1-108 aa encoded by BC119644 )
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: biogenesis of lysosomal organelles complex-1, subunit 5, muted; Biogenesis of lysosome-related organelles complex 1 subunit 5; BLOC-1 subunit 5; muted homolog; Protein Muted homolog
Gene Aliases: BLOC1S5; BLOS5; MU; MUTED
UniProt ID: (Human) Q8TDH9
Entrez Gene ID: (Human) 63915
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