Rabggta

Summary

Gene Symbol: Rabggta
Description: Rab geranylgeranyl transferase, a subunit
Alias: geranylgeranyl transferase type-2 subunit alpha, geranylgeranyl transferase type II subunit alpha, gunmetal, rab GG transferase alpha, rab GGTase alpha, rab geranylgeranyltransferase subunit alpha
Species: mouse
Products:     Rabggta

Top Publications

  1. Swank R, Jiang S, Reddington M, Conway J, Stephenson D, McGarry M, et al. Inherited abnormalities in platelet organelles and platelet formation and associated altered expression of low molecular weight guanosine triphosphate-binding proteins in the mouse pigment mutant gunmetal. Blood. 1993;81:2626-35 pubmed
    b>Gunmetal (gm/gm) is a recessively inherited mouse pigment dilution mutant that has high mortality and poor reproductive rates...
  2. McGarry M, Reddington M, Novak E, Swank R. Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. Proc Soc Exp Biol Med. 1999;220:162-8 pubmed
    ..Life spans were similarly severely reduced in the beige and gunmetal mutants...
  3. Zhang Q, Zhen L, Li W, Novak E, Collinson L, Jang E, et al. Cell-specific abnormal prenylation of Rab proteins in platelets and melanocytes of the gunmetal mouse. Br J Haematol. 2002;117:414-23 pubmed
    The mutant gunmetal mouse exhibits reduced rates of platelet synthesis, abnormalities of platelet alpha and dense granules and hypopigmentation...
  4. Tiwari S, Italiano J, Barral D, Mules E, Novak E, Swank R, et al. A role for Rab27b in NF-E2-dependent pathways of platelet formation. Blood. 2003;102:3970-9 pubmed
    ..of the Rab family of small GTPases (guanosine 5'-triphosphatases) in platelet biogenesis is revealed in gunmetal (gm/gm) mice, which show deficient Rab isoprenylation and macrothrombocytopenia with few granules and abnormal ..
  5. Kotti T, Head D, McKenna C, Russell D. Biphasic requirement for geranylgeraniol in hippocampal long-term potentiation. Proc Natl Acad Sci U S A. 2008;105:11394-9 pubmed publisher
    ..We conclude that geranylgeraniol acts specifically and quickly to affect LTP in the Schaffer collaterals of the hippocampus. ..
  6. Coxon F, Taylor A, Stewart C, Baron R, Seabra M, Ebetino F, et al. The gunmetal mouse reveals Rab geranylgeranyl transferase to be the major molecular target of phosphonocarboxylate analogues of bisphosphonates. Bone. 2011;49:111-21 pubmed publisher
    ..Secondly, we have found that cells from the gunmetal (gm/gm) mouse, which bear a homozygous mutation in RGGT that results in ~80% reduced activity of this enzyme ..
  7. Stinchcombe J, Barral D, Mules E, Booth S, Hume A, Machesky L, et al. Rab27a is required for regulated secretion in cytotoxic T lymphocytes. J Cell Biol. 2001;152:825-34 pubmed
    ..is affected in several mouse models of human disease including Griscelli (ashen mice) and Hermansky-Pudlak (gunmetal mice) syndromes...
  8. Barral D, Ramalho J, Anders R, Hume A, Knapton H, Tolmachova T, et al. Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome. J Clin Invest. 2002;110:247-57 pubmed
    ..Our data suggest that Rab27b is functionally redundant with Rab27a and that the pathogenesis of GS is determined by the relative expression of Rab27a and Rab27b in specialized cell types. ..
  9. Anderson M, Hawes N, Trantow C, Chang B, John S. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res. 2008;21:565-78 pubmed publisher
    ..Combined, these findings illustrate the utility of studying iris phenotypes as a means of discovering new pathways, and re-linking old ones, to processes of pigmented cells in health and disease. ..

More Information

Publications15

  1. Wei L, Lee C, Chinpaisal C, Copeland N, Gilbert D, Jenkins N, et al. Studies of cloning, chromosomal mapping, and embryonic expression of the mouse Rab geranylgeranyl transferase beta subunit. Cell Growth Differ. 1995;6:607-14 pubmed
    ..5 and E13.5. In addition, the expression of this gene is induced by retinoic acid in a mouse embryonal carcinoma cell line, P19. ..
  2. Novak E, Reddington M, Zhen L, Stenberg P, Jackson C, McGarry M, et al. Inherited thrombocytopenia caused by reduced platelet production in mice with the gunmetal pigment gene mutation. Blood. 1995;85:1781-9 pubmed
    ..macrothrombocytopenia and prolonged bleeding times are associated with the recessive mouse pigment dilution gene gunmetal (gm)...
  3. McGarry M, Reddington M, Jackson C, Zhen L, Novak E, Swank R. Increased incidence and analysis of emperipolesis in megakaryocytes of the mouse mutant gunmetal. Exp Mol Pathol. 1999;66:191-200 pubmed
    Mutant gunmetal (gm/gm) mice exhibit prolonged bleeding, platelet granule defects, abnormal megakaryocyte demarcation membranes, and thrombocytopenia. The number of megakaryocytes in gm/gm mice is increased substantially...
  4. Swank R, Novak E, McGarry M, Zhang Y, Li W, Zhang Q, et al. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Pigment Cell Res. 2000;13 Suppl 8:59-67 pubmed
    ..The protein products of the pallid and gunmetal genes are also important components of the vesicular trafficking machinery...
  5. Nguyen T, Novak E, Kermani M, Fluhr J, Peters L, Swank R, et al. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol. 2002;119:1156-64 pubmed
    ..to keratinocytes is inhibited, with the cappuccino strain observed to be blocked at the earliest step and gunmetal blocked at the latest step...
  6. Taylor A, Mules E, Seabra M, Helfrich M, Rogers M, Coxon F. Impaired prenylation of Rab GTPases in the gunmetal mouse causes defects in bone cell function. Small Gtpases. 2011;2:131-142 pubmed
    ..The gunmetal (gm/gm) mouse bears a mutation in the catalytic subunit of RGGT, causing a loss of 75% of the activity of this ..