Gene Review:
RAB27A - RAB27A, member RAS oncogene family
Homo sapiens
Synonyms:
GS2, GTP-binding protein Ram, HsT18676, RAB27, RAM, ...
- Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. Anikster, Y., Huizing, M., Anderson, P.D., Fitzpatrick, D.L., Klar, A., Gross-Kieselstein, E., Berkun, Y., Shazberg, G., Gahl, W.A., Hurvitz, H. Am. J. Hum. Genet. (2002)
- Deficient geranylgeranylation of Ram/Rab27 in choroideremia. Seabra, M.C., Ho, Y.K., Anant, J.S. J. Biol. Chem. (1995)
- Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Ménasché, G., Pastural, E., Feldmann, J., Certain, S., Ersoy, F., Dupuis, S., Wulffraat, N., Bianchi, D., Fischer, A., Le Deist, F., de Saint Basile, G. Nat. Genet. (2000)
- Constitutive GDP/GTP Exchange and Secretion-dependent GTP Hydrolysis Activity for Rab27 in Platelets. Kondo, H., Shirakawa, R., Higashi, T., Kawato, M., Fukuda, M., Kita, T., Horiuchi, H. J. Biol. Chem. (2006)
- Characterization of a novel chemokine-containing storage granule in endothelial cells: evidence for preferential exocytosis mediated by protein kinase A and diacylglycerol. Øynebråten, I., Barois, N., Hagelsteen, K., Johansen, F.E., Bakke, O., Haraldsen, G. J. Immunol. (2005)
- Cloning, mapping and characterization of the human RAB27A gene. Tolmachova, T., Ramalho, J.S., Anant, J.S., Schultz, R.A., Huxley, C.M., Seabra, M.C. Gene (1999)
- Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene. Ramalho, J.S., Tolmachova, T., Hume, A.N., McGuigan, A., Gregory-Evans, C.Y., Huxley, C., Seabra, M.C. BMC Genet. (2001)
- Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R., Kabisch, H., Janka, G., Hennies, H.C. Hum. Mutat. (2006)
- Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). Ménasché, G., Ho, C.H., Sanal, O., Feldmann, J., Tezcan, I., Ersoy, F., Houdusse, A., Fischer, A., de Saint Basile, G. J. Clin. Invest. (2003)
- The roles of Rab27 and its effectors in the regulated secretory pathways. Izumi, T., Gomi, H., Kasai, K., Mizutani, S., Torii, S. Cell Struct. Funct. (2003)
- Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. Bahadoran, P., Busca, R., Chiaverini, C., Westbroek, W., Lambert, J., Bille, K., Valony, G., Fukuda, M., Naeyaert, J.M., Ortonne, J.P., Ballotti, R. J. Biol. Chem. (2003)
- Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. Bizario, J.C., Feldmann, J., Castro, F.A., Ménasché, G., Jacob, C.M., Cristofani, L., Casella, E.B., Voltarelli, J.C., de Saint-Basile, G., Espreafico, E.M. J. Clin. Immunol. (2004)
- Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts. Westbroek, W., Lambert, J., De Schepper, S., Kleta, R., Van Den Bossche, K., Seabra, M.C., Huizing, M., Mommaas, M., Naeyaert, J.M. Pigment Cell Res. (2004)
- Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. Schuster, F., Stachel, D.K., Schmid, I., Baumeister, F.A., Graubner, U.B., Weiss, M., Haas, R.J., Belohradsky, B.H. Bone Marrow Transplant. (2001)
- Cytosolic glutamine synthetase in soybean is encoded by a multigene family, and the members are regulated in an organ-specific and developmental manner. Morey, K.J., Ortega, J.L., Sengupta-Gopalan, C. Plant Physiol. (2002)
- Purification and partial characterization of glutamine synthetase isoforms from Triticale seedlings. Bielawski, W. Acta Biochim. Pol. (1994)
- Molecular screening for GS2 lipase regulators: inhibition of keratinocyte retinylester hydrolysis by TIP47. Gao, J.G., Simon, M. J. Invest. Dermatol. (2006)
- Functional involvement of Noc2, a Rab27 effector, in rat parotid acinar cells. Imai, A., Yoshie, S., Nashida, T., Shimomura, H., Fukuda, M. Arch. Biochem. Biophys. (2006)
- Synaptotagmin-like protein (Slp) homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A. Fukuda, M. J. Biol. Chem. (2002)
- Rab27 and its effectors in secretory granule exocytosis: a novel docking machinery composed of a Rab27.effector complex. Fukuda, M. Biochem. Soc. Trans. (2006)
- The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis. Cheviet, S., Coppola, T., Haynes, L.P., Burgoyne, R.D., Regazzi, R. Mol. Endocrinol. (2004)
- Impaired plasma clearance of nicotinic acid and rifamycin-SV in Gilbert's syndrome: evidence of a functional heterogeneity. Gentile, S., Marmo, R., Persico, M., Bronzino, P., Coltorti, M. Hepatogastroenterology (1985)
- Highly effective expression of glutamine synthetase genes GS1 and GS2 in transgenic rice plants increases nitrogen-deficiency tolerance. Sun, H., Huang, Q.M., Su, J. Zhi Wu Sheng Li Yu Fen Zi Sheng Wu Xue Xue Bao (2005)