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Immunogen sequence: TRGNLRLLSA LGLFCVGWEA PQGVELPSAK DLVFEEACGY YQRRSLRGAQ LTPEELRHSS TFRAPQALAS ILQGHLPPSA LLTM
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: BLOC-2 complex member HPS6; FLJ22501; Hermansky-Pudlak syndrome 6; Hermansky-Pudlak syndrome 6 protein; Hermansky-Pudlak syndrome-6 protein (HPS6); MGC20522; RP11-302K17.1; Ru; Ruby-eye protein homolog
Gene Aliases: BLOC2S3; HPS6
UniProt ID: (Human) Q86YV9
Entrez Gene ID: (Human) 79803
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