Structural highlights
Disease
[RB27A_HUMAN] Griscelli syndrome type 2. The disease is caused by mutations affecting the gene represented in this entry.
Function
[RB27A_HUMAN] Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.[1]
References
- ↑ Menasche G, Menager MM, Lefebvre JM, Deutsch E, Athman R, Lambert N, Mahlaoui N, Court M, Garin J, Fischer A, de Saint Basile G. A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion. Blood. 2008 Dec 15;112(13):5052-62. doi: 10.1182/blood-2008-02-141069. Epub 2008 , Sep 23. PMID:18812475 doi:http://dx.doi.org/10.1182/blood-2008-02-141069