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Immunogen sequence: MSGGGTETPVG CEAAPGGGSK KRDSLGTAGS AHLIIKDLGE IHSRLLDHRP VIQGETRYFV KEFEEKRGLR EMRVLE
Highest antigen sequence identity to the following orthologs - mouse 86%, rat 91%.
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.
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