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RABGGTA  -  Rab geranylgeranyltransferase, alpha subunit

Homo sapiens

Synonyms: Geranylgeranyl transferase type II subunit alpha, Geranylgeranyl transferase type-2 subunit alpha, PTAR3, Rab GG transferase alpha, Rab GGTase alpha, ...
 
 
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Disease relevance of RABGGTA

  • Knowledge of the 5'-UTR structure of RABGGTA and its common polymorphisms will be useful for mutation screening or linkage analysis in patients with albinism, thrombocytopenia, or platelet SPD [1].
 

High impact information on RABGGTA

  • While the expression of the TGM1 gene is markedly affected by the calcium concentration of the medium, all trans retinoic acid, vitamin D3, and TPA treatment, the expression of the RABGGTA gene was unaffected by these reagents [2].
 

Other interactions of RABGGTA

  • Even though TGM1 and RABGGTA have different functions, their close localization raised the question as to whether they are functionally related in the epidermis [2].

References

  1. 5'-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene. Li, W., Detter, J.C., Weiss, H.J., Cramer, E.M., Zhang, Q., Novak, E.K., Favier, R., Kingsmore, S.F., Swank, R.T. Mol. Genet. Metab. (2000) [Pubmed]
  2. The genes encoding geranylgeranyl transferase alpha-subunit and transglutaminase 1 are very closely linked but not functionally related in terminally differentiating keratinocytes. Song, H.J., Rossi, A., Ceci, R., Kim, I.G., Anzano, M.A., Jang, S.I., De Laurenzi, V., Steinert, P.M. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
 
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