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Gene Review

GBA  -  glucosidase, beta, acid

Homo sapiens

Synonyms: Acid beta-glucosidase, Alglucerase, Beta-GC, Beta-glucocerebrosidase, D-glucosyl-N-acylsphingosine glucohydrolase, ...
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Disease relevance of GBA


Psychiatry related information on GBA

  • To know if both tracers reacted in the same manner when brain cholinergic neurotransmission was activated, CBF and GC were measured in young normals (YN), aged normals (AN), and Alzheimer's Disease patients (AD) using positron emission tomography (PET), H2 15O, and 18F-FDG [6].
  • Similar data on two cases of Huntington's disease showed no significant correlations, while 1 patient with Parkinson dementia showed a significant (negative) correlation only with Gluc [7].

High impact information on GBA


Chemical compound and disease context of GBA


Biological context of GBA


Anatomical context of GBA


Associations of GBA with chemical compounds


Regulatory relationships of GBA


Other interactions of GBA

  • A highly conserved haplotype at four markers flanking GBA (PKLR, D1S1595, D1S2721, and D1S2777) was observed on both the AJ chromosomes and the non-Jewish N370S chromosomes, suggesting the occurrence of a founder common to both populations [1].
  • Our results show that six markers cosegregate with the GBA gene (Zmax = 8.73 at theta = 0.00 for marker D1S2714) and define a 3.2-cM interval between D1S305 and D1S2624 as the most probable location for the gene [2].
  • There exists 16kb downstream from the functional GBA gene (chromosome 1q21) a highly homologous transcribed pseudogene (GBAP) with some sequence differences to GBA [3].
  • The origin and endpoints of the duplication leading to the pseudogenes for GBA and MTX are now clearly established [27].
  • Of these three genes, the gene most distal to GBA is a protein kinase (clk2) [27].

Analytical, diagnostic and therapeutic context of GBA


  1. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. Diaz, G.A., Gelb, B.D., Risch, N., Nygaard, T.G., Frisch, A., Cohen, I.J., Miranda, C.S., Amaral, O., Maire, I., Poenaru, L., Caillaud, C., Weizberg, M., Mistry, P., Desnick, R.J. Am. J. Hum. Genet. (2000) [Pubmed]
  2. Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease. Cormand, B., Montfort, M., Chabás, A., Vilageliu, L., Grinberg, D. Hum. Genet. (1997) [Pubmed]
  3. Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis. Finckh, U., Seeman, P., von Widdern, O.C., Rolfs, A. DNA Seq. (1998) [Pubmed]
  4. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Toft, M., Pielsticker, L., Ross, O.A., Aasly, J.O., Farrer, M.J. Neurology (2006) [Pubmed]
  5. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. Aharon-Peretz, J., Rosenbaum, H., Gershoni-Baruch, R. N. Engl. J. Med. (2004) [Pubmed]
  6. Cholinergic neurotransmission has different effects on cerebral glucose consumption and blood flow in young normals, aged normals, and Alzheimer's disease patients. Blin, J., Ivanoiu, A., Coppens, A., De Volder, A., Labar, D., Michel, C., Laterre, E.C. Neuroimage (1997) [Pubmed]
  7. Correlations of regional postmortem enzyme activities with premortem local glucose metabolic rates in Alzheimer's disease. McGeer, E.G., McGeer, P.L., Harrop, R., Akiyama, H., Kamo, H. J. Neurosci. Res. (1990) [Pubmed]
  8. A less costly regimen of alglucerase to treat Gaucher's disease. Figueroa, M.L., Rosenbloom, B.E., Kay, A.C., Garver, P., Thurston, D.W., Koziol, J.A., Gelbart, T., Beutler, E. N. Engl. J. Med. (1992) [Pubmed]
  9. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. Grace, M.E., Ashton-Prolla, P., Pastores, G.M., Soni, A., Desnick, R.J. J. Clin. Invest. (1999) [Pubmed]
  10. Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. Grace, M.E., Desnick, R.J., Pastores, G.M. J. Clin. Invest. (1997) [Pubmed]
  11. Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine. Grabowski, G.A., Dinur, T., Osiecki, K.M., Kruse, J.R., Legler, G., Gatt, S. Am. J. Hum. Genet. (1985) [Pubmed]
  12. Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase. Steet, R., Chung, S., Lee, W.S., Pine, C.W., Do, H., Kornfeld, S. Biochem. Pharmacol. (2007) [Pubmed]
  13. Translational inefficiency of acid beta-glucosidase mRNA in transgenic mammalian cells. Xu, Y.H., Grabowski, G.A. Mol. Genet. Metab. (1998) [Pubmed]
  14. Gentamicin-blood agar for isolation of Streptococcus pneumoniae from respiratory secretions. Schmid, R.E., Washington, J.A., Anhalt, J.P. J. Clin. Microbiol. (1978) [Pubmed]
  15. Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. Mistry, P.K., Wraight, E.P., Cox, T.M. Lancet (1996) [Pubmed]
  16. Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia. Recalde, D., Cenarro, A., García-Otín, A.L., Gómez-Coronado, D., Civeira, F., Pocoví, M. Atherosclerosis (2002) [Pubmed]
  17. PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations. Mateu, E., Pérez-Lezaun, A., Martínez-Arias, R., Andrés, A., Vallés, M., Bertranpetit, J., Calafell, F. Hum. Genet. (2002) [Pubmed]
  18. Assignment of the gene for acid beta-glucosidase to human chromosome 1. Shafit-Zagardo, B., Devine, E.A., Smith, M., Arredondo-Vega, F., Desnick, R.J. Am. J. Hum. Genet. (1981) [Pubmed]
  19. A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. Imai, K., Nakamura, M., Yamada, M., Asano, A., Yokoyama, S., Tsuji, S., Ginns, E.I. Gene (1993) [Pubmed]
  20. Purification of lysosomal membrane proteins from human placenta. Diettrich, O., Gallert, F., Hasilik, A. Eur. J. Cell Biol. (1996) [Pubmed]
  21. The toxicity of guanidino compounds in the red blood cell in uremia and the effects of hemodialysis. Shainkin-Kestenbaum, R., Giat, Y., Berlyne, G.M. Nephron (1982) [Pubmed]
  22. Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. Dinur, T., Osiecki, K.M., Legler, G., Gatt, S., Desnick, R.J., Grabowski, G.A. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  23. Glucocorticoid receptor polymorphism affects transrepression but not transactivation. van den Akker, E.L., Russcher, H., van Rossum, E.F., Brinkmann, A.O., de Jong, F.H., Hokken, A., Pols, H.A., Koper, J.W., Lamberts, S.W. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  24. A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. Parenti, G., Filocamo, M., Titomanlio, L., Rizzolo, G., Silvestro, E., Perretti, A., Gatti, R., Andria, G. Clin. Genet. (1998) [Pubmed]
  25. Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene. Martínez-Arias, R., Mateu, E., Bertranpetit, J., Calafell, F. Hum. Genet. (2001) [Pubmed]
  26. Enzyme replacement therapy decreases hypergammaglobulinemia in Gaucher's disease. Deibener, J., Kaminsky, P., Jacob, C., Dousset, B., Klein, M., Duc, M. Haematologica (1998) [Pubmed]
  27. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Winfield, S.L., Tayebi, N., Martin, B.M., Ginns, E.I., Sidransky, E. Genome Res. (1997) [Pubmed]
  28. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome. Cormand, B., Grinberg, D., Gort, L., Chabás, A., Vilageliu, L. Hum. Mutat. (1998) [Pubmed]
  29. Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system. Ginns, E.I., Choudary, P.V., Martin, B.M., Winfield, S., Stubblefield, B., Mayor, J., Merkle-Lehman, D., Murray, G.J., Bowers, L.A., Barranger, J.A. Biochem. Biophys. Res. Commun. (1984) [Pubmed]
  30. Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations. Alfonso, P., Pampín, S., Estrada, J., Rodríguez-Rey, J.C., Giraldo, P., Sancho, J., Pocoví, M. Blood Cells Mol. Dis. (2005) [Pubmed]
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