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Gene Review

Gba  -  glucosidase, beta, acid

Mus musculus

Synonyms: Acid beta-glucosidase, Beta-glucocerebrosidase, D-glucosyl-N-acylsphingosine glucohydrolase, GBA1, GC, ...
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Disease relevance of Gba


Psychiatry related information on Gba

  • This unique case confirms the essential role of glucocerebrosidase in human development and, like the null allele Gaucher mouse, demonstrates the lethality of a homozygous null mutation [6].

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

  • A phosphoglycerate kinase-neomycin gene cassette was also inserted into the 3'-flanking region of GC as a selectable marker, at a site later identified as the terminal exon of metaxin [1].
  • The visceral tissue storage cells and glucosylceramide (GC) accumulation in hGCase/4L/PS-NA were decreased from that in 4L/PS-NA mice [10].
  • Treatment of PS-/- cells with leupeptin, an inhibitor of cysteine proteases, led to significant increases (approximately 2-fold) in GCase protein and in vitro activity [14].
  • Gaucher and BrCBE-treated mice showed < 1% and < 5% of normal epidermal glucocerebrosidase activity, respectively, and the epidermis/SC of Gaucher mice demonstrated elevated glucosylceramide (5- to 10-fold), with diminished ceramide content [16].
  • When conduritol-B-epoxide, a specific inhibitor of beta-glucocerebrosidase, was added to the culture medium, the synthesis of acylceramide was significantly suppressed in concert with a significant increase in acylglucosylceramide [19].

Other interactions of Gba

  • Upon induction with IL-6 of the seven transduced clones to the macrophage phenotype, there was no significant change, overall, in RNA levels but some increase in human GC protein levels could be detected [3].
  • These abnormalities were attributable to a decrease in beta-glucocerebrosidase (beta-GlcCer'ase) and acidic sphingomyelinase (aSMase) catalytic activity and enzyme degradation consequent to a pH-induced sustained serine protease (SP) activity [20].
  • The structural organization of the THBS3 gene is of interest because of its close proximity to that of metaxin, with which it shares a common promoter sequence, and to the gene encoding glucocerebrosidase, a deficiency in which causes Gaucher disease [21].
  • We have investigated the mRNA amounts of six lysosomal proteins (beta-hexosaminidase alpha- and beta-subunit, sphingolipid activator protein precursor, GM2 activator protein, lysosomal sialidase, beta-glucocerebrosidase) involved in the degradation of glycosphingolipids [22].
  • Expression of the human multidrug resistance and glucocerebrosidase cDNAs from adeno-associated vectors: efficient promoter activity of AAV sequences and in vivo delivery via liposomes [23].

Analytical, diagnostic and therapeutic context of Gba


  1. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Bornstein, P., McKinney, C.E., LaMarca, M.E., Winfield, S., Shingu, T., Devarayalu, S., Vos, H.L., Ginns, E.I. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  2. Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. Sun, Y., Quinn, B., Witte, D.P., Grabowski, G.A. J. Lipid Res. (2005) [Pubmed]
  3. Evaluation of expression of transferred genes in differentiating myeloid cells: expression of human glucocerebrosidase in murine macrophages. Freas, D.L., Correll, P.H., Dougherty, S.F., Karlsson, S., Pluznik, D.H. Hum. Gene Ther. (1993) [Pubmed]
  4. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Orvisky, E., Sidransky, E., McKinney, C.E., Lamarca, M.E., Samimi, R., Krasnewich, D., Martin, B.M., Ginns, E.I. Pediatr. Res. (2000) [Pubmed]
  5. Complete correction of the enzymatic defect of type I Gaucher disease fibroblasts by retroviral-mediated gene transfer. Sorge, J., Kuhl, W., West, C., Beutler, E. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  6. Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene. Tayebi, N., Cushner, S.R., Kleijer, W., Lau, E.K., Damschroder-Williams, P.J., Stubblefield, B.K., Den Hollander, J., Sidransky, E. Am. J. Med. Genet. (1997) [Pubmed]
  7. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Tybulewicz, V.L., Tremblay, M.L., LaMarca, M.E., Willemsen, R., Stubblefield, B.K., Winfield, S., Zablocka, B., Sidransky, E., Martin, B.M., Huang, S.P. Nature (1992) [Pubmed]
  8. Functional heterogeneity of marginal zone B cells revealed by their ability to generate both early antibody-forming cells and germinal centers with hypermutation and memory in response to a T-dependent antigen. Song, H., Cerny, J. J. Exp. Med. (2003) [Pubmed]
  9. Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. Mizukami, H., Mi, Y., Wada, R., Kono, M., Yamashita, T., Liu, Y., Werth, N., Sandhoff, R., Sandhoff, K., Proia, R.L. J. Clin. Invest. (2002) [Pubmed]
  10. Conditional expression of human acid {beta}-glucosidase improves the visceral phenotype in a Gaucher disease mouse model. Sun, Y., Quinn, B., Xu, Y.H., Leonova, T., Witte, D.P., Grabowski, G.A. J. Lipid Res. (2006) [Pubmed]
  11. Binding, internalization, and degradation of mannose-terminated glucocerebrosidase by macrophages. Sato, Y., Beutler, E. J. Clin. Invest. (1993) [Pubmed]
  12. Glucan is a component of the Mycobacterium tuberculosis surface that is expressed in vitro and in vivo. Schwebach, J.R., Glatman-Freedman, A., Gunther-Cummins, L., Dai, Z., Robbins, J.B., Schneerson, R., Casadevall, A. Infect. Immun. (2002) [Pubmed]
  13. Destruction and resynthesis of mouse beta-glucosidases. Hara, A., Radin, N.S. Biochim. Biophys. Acta (1979) [Pubmed]
  14. Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation. Sun, Y., Qi, X., Grabowski, G.A. J. Biol. Chem. (2003) [Pubmed]
  15. Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. O'Neill, R.R., Tokoro, T., Kozak, C.A., Brady, R.O. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  16. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. Holleran, W.M., Ginns, E.I., Menon, G.K., Grundmann, J.U., Fartasch, M., McKinney, C.E., Elias, P.M., Sidransky, E. J. Clin. Invest. (1994) [Pubmed]
  17. Isolation of a GC-rich cDNA identifying mRNA present in human epidermis and modulated by calcium and retinoic acid in cultured keratinocytes. Homology with murine loricrin mRNA. Magnaldo, T., Pommes, L., Asselineau, D., Darmon, M. Mol. Biol. Rep. (1990) [Pubmed]
  18. The human glucocerebrosidase gene has two functional ATG initiator codons. Sorge, J.A., West, C., Kuhl, W., Treger, L., Beutler, E. Am. J. Hum. Genet. (1987) [Pubmed]
  19. Biosynthesis of acylceramide in murine epidermis: characterization by inhibition of glucosylation and deglucosylation, and by substrate specificity. Takagi, Y., Nakagawa, H., Matsuo, N., Nomura, T., Takizawa, M., Imokawa, G. J. Invest. Dermatol. (2004) [Pubmed]
  20. Sustained serine proteases activity by prolonged increase in pH leads to degradation of lipid processing enzymes and profound alterations of barrier function and stratum corneum integrity. Hachem, J.P., Man, M.Q., Crumrine, D., Uchida, Y., Brown, B.E., Rogiers, V., Roseeuw, D., Feingold, K.R., Elias, P.M. J. Invest. Dermatol. (2005) [Pubmed]
  21. Structure and organization of the human thrombospondin 3 gene (THBS3). Adolph, K.W., Long, G.L., Winfield, S., Ginns, E.I., Bornstein, P. Genomics (1995) [Pubmed]
  22. Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency. Potratz, A., Hüttler, S., Bierfreund, U., Proia, R.L., Suzuki, K., Sandhoff, K. Biochim. Biophys. Acta (2000) [Pubmed]
  23. Expression of the human multidrug resistance and glucocerebrosidase cDNAs from adeno-associated vectors: efficient promoter activity of AAV sequences and in vivo delivery via liposomes. Baudard, M., Flotte, T.R., Aran, J.M., Thierry, A.R., Pastan, I., Pang, M.G., Kearns, W.G., Gottesman, M.M. Hum. Gene Ther. (1996) [Pubmed]
  24. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Ginns, E.I., Choudary, P.V., Tsuji, S., Martin, B., Stubblefield, B., Sawyer, J., Hozier, J., Barranger, J.A. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  25. Molecular and functional characterization of the murine glucocerebrosidase gene. Carstea, E.D., Murray, G.J., O'Neill, R.R. Biochem. Biophys. Res. Commun. (1992) [Pubmed]
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