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Immunogen sequence: MSDGDYDYL IKFLALGDSG VGKTSVLYQY TDGKFNSKFI TTVGIDFREK RVVYRASGPD GATGRGQRIH LQLWDTAGQE RFRSLTTAFF RDAMGFLLLF DLTNEQSFLN VRNWISQLQM HAYCENPDIV LCGNKSDLED QRVVKEEEAI ALAEKYGIPY FETSAANGTN ISQAIEMLLD LIMKRMERCV DKSWIPEGVV RSNGHASTDQ LSEEKEKGAC GC (1-221 aa encoded by BC107680)
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.
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Protein Aliases: ashen; GTP-binding protein Ram; mutant Ras-related protein Rab-27A; Rab-27; Ras-related protein Rab-27A
Gene Aliases: 2210402C08Rik; 2410003M20Rik; 4933437C11Rik; ash; GS2; HsT18676; RAB27; RAB27A; RAM