Glucocerebrosidase (GBA)

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GBA1; GCB; GLUC; Imiglucerase; Alglucerase; Beta-glucocerebrosidase; Glucosidase Beta, Acid; β-Glucosidase; D-Glucosyl-N-Acylsphingosine Glucohydrolase

Glucocerebrosidase (GBA)

Glucocerebrosidase is an enzyme (EC 3.2.1.45) that is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism. It is localized in the lysosome and has a molecular weight of 59700 Daltons. In November 2008 GBA was the gene with the strongest association with Parkinson's disease in the PDGene database The initial study that examined this link was published in 2004.
Mutations in the gene cause Gaucher's disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants encoding the same protein.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC511Hu01 Recombinant Glucocerebrosidase (GBA) Positive Control; Immunogen; SDS-PAGE; WB.
RPC511Hu02 Recombinant Glucocerebrosidase (GBA) Positive Control; Immunogen; SDS-PAGE; WB.
RPC511Hu03 Recombinant Glucocerebrosidase (GBA) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC511Hu01 Polyclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC; IP.
MAC511Hu22 Monoclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC; IP.
PAC511Hu02 Polyclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC; IP.
LAC511Hu71 Biotin-Linked Polyclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC.
LAC511Hu72 Biotin-Linked Monoclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC.
PAC511Hu03 Polyclonal Antibody to Glucocerebrosidase (GBA) WB
Assay Kits SEC511Hu ELISA Kit for Glucocerebrosidase (GBA) Enzyme-linked immunosorbent assay for Antigen Detection.
SCC511Hu CLIA Kit for Glucocerebrosidase (GBA) Chemiluminescent immunoassay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC511Mu01 Recombinant Glucocerebrosidase (GBA) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC511Mu01 Polyclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC; IP.
LAC511Mu81 FITC-Linked Polyclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC; IF.
LAC511Mu71 Biotin-Linked Polyclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC.
Assay Kits n/a CLIA Kit for Glucocerebrosidase (GBA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucocerebrosidase (GBA) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC511Ra01 Recombinant Glucocerebrosidase (GBA) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC511Ra01 Polyclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC; IP.
LAC511Ra81 FITC-Linked Polyclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC; IF.
LAC511Ra71 Biotin-Linked Polyclonal Antibody to Glucocerebrosidase (GBA) WB; IHC; ICC.
Assay Kits n/a CLIA Kit for Glucocerebrosidase (GBA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucocerebrosidase (GBA) ELISA Kit Customized Service Offer
  1. "Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA."Proc. Natl. Acad. Sci. U.S.A. 82:7289-7293(1985) [PubMed] [Europe PMC] [Abstract]
  2. "Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase."J. Biol. Chem. 261:50-53(1986) [PubMed] [Europe PMC] [Abstract]
  3. "The human glucocerebrosidase gene and pseudogene: structure and evolution."Genomics 4:87-96(1989) [PubMed] [Europe PMC] [Abstract]
  4. "Polymorphisms in the human glucocerebrosidase gene."Genomics 12:795-800(1992) [PubMed] [Europe PMC] [Abstract]
  5. "A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells."Gene 136:365-368(1993) [PubMed] [Europe PMC] [Abstract]
  6. "Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease."Genome Res. 7:1020-1026(1997) [PubMed] [Europe PMC] [Abstract]
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  8. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Structural analysis of the human glucocerebrosidase genes."DNA 7:107-116(1988) [PubMed] [Europe PMC] [Abstract]
  11. "The human glucocerebrosidase gene has two functional ATG initiator codons."Am. J. Hum. Genet. 41:1016-1024(1987) [PubMed] [Europe PMC] [Abstract]
  12. "Structural studies of human placental glucocerebrosidase."Fed. Proc. 43:1869-1869(1984)
  13. "Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system."Biochem. Biophys. Res. Commun. 123:574-580(1984) [PubMed] [Europe PMC] [Abstract]
  14. "Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals."Proc. Natl. Acad. Sci. U.S.A. 85:2349-2352(1988)
  15. "Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site."Proc. Natl. Acad. Sci. U.S.A. 83:1660-1664(1986) [PubMed] [Europe PMC] [Abstract]
  16. "Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry."J. Biol. Chem. 269:10975-10978(1994) [PubMed] [Europe PMC] [Abstract]
  17. "Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids."FEBS Lett. 472:17-21(2000) [PubMed] [Europe PMC] [Abstract]
  18. "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract]
  19. "LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase."Cell 131:770-783(2007) [PubMed] [Europe PMC] [Abstract]
  20. "Integral and associated lysosomal membrane proteins."Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
  21. "Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease."Brain 132:1783-1794(2009) [PubMed] [Europe PMC] [Abstract]
  22. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  23. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  24. "X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease."EMBO Rep. 4:704-709(2003) [PubMed] [Europe PMC] [Abstract]
  25. "X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease."J. Biol. Chem. 280:23815-23819(2005) [PubMed] [Europe PMC] [Abstract]
  26. "Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations."J. Biol. Chem. 281:4242-4253(2006) [PubMed] [Europe PMC] [Abstract]
  27. "Structural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease."Acta Crystallogr. D 62:1458-1465(2006) [PubMed] [Europe PMC] [Abstract]
  28. "Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease."Nat. Chem. Biol. 3:101-107(2007) [PubMed] [Europe PMC] [Abstract]
  29. "Mutations causing Gaucher disease."Hum. Mutat. 3:1-11(1994) [PubMed] [Europe PMC] [Abstract]
  30. "Glucocerebrosidase (Gaucher disease)."Hum. Mutat. 8:207-213(1996) [PubMed] [Europe PMC] [Abstract]
  31. "Type 2 Gaucher disease: an expanding phenotype."Mol. Genet. Metab. 68:209-219(1999) [PubMed] [Europe PMC] [Abstract]
  32. "Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease."Hum. Mutat. 15:181-188(2000) [PubMed] [Europe PMC] [Abstract]
  33. "Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution."Ann. Hum. Genet. 54:149-153(1990) [PubMed] [Europe PMC] [Abstract]
  34. "Sequence of two alleles responsible for Gaucher disease."DNA Cell Biol. 9:233-241(1990) [PubMed] [Europe PMC] [Abstract]
  35. "Identification of six new Gaucher disease mutations."Genomics 15:203-205(1993) [PubMed] [Europe PMC] [Abstract]
  36. "DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent."Am. J. Med. Genet. 51:156-160(1994) [PubMed] [Europe PMC] [Abstract]
  37. "Two new Gaucher disease mutations."Hum. Genet. 93:209-210(1994) [PubMed] [Europe PMC] [Abstract]
  38. "Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site."Hum. Genet. 94:314-315(1994) [PubMed] [Europe PMC] [Abstract]
  39. "Glucocerebrosidase mutations in Gaucher disease."Mol. Med. 1:82-92(1994) [PubMed] [Europe PMC] [Abstract]
  40. "Gaucher disease in Spanish patients: analysis of eight mutations."Hum. Mutat. 5:303-309(1995) [PubMed] [Europe PMC] [Abstract]
  41. "Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease."Hum. Mutat. 5:345-347(1995) [PubMed] [Europe PMC] [Abstract]
  42. "The molecular characterization of Gaucher disease in South Africa."Clin. Genet. 50:78-84(1996) [PubMed] [Europe PMC] [Abstract]
  43. "Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations."Hum. Mutat. 7:214-218(1996) [PubMed] [Europe PMC] [Abstract]
  44. "Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients."Hum. Mutat. 7:272-274(1996) [PubMed] [Europe PMC] [Abstract]
  45. "Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese."Hum. Mutat. 8:280-281(1996) [PubMed] [Europe PMC] [Abstract]
  46. "Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease."Neurology 46:1102-1107(1996) [PubMed] [Europe PMC] [Abstract]
  47. "Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses."Am. J. Med. Genet. 70:437-443(1997) [PubMed] [Europe PMC] [Abstract]
  48. "Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients."Am. J. Med. Genet. 71:172-178(1997) [PubMed] [Europe PMC] [Abstract]
  49. "Mutation analysis in 46 British and Irish patients with Gaucher's disease."Arch. Dis. Child. 77:17-22(1997) [PubMed] [Europe PMC] [Abstract]
  50. "Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients."J. Clin. Invest. 99:2530-2537(1997) [PubMed] [Europe PMC] [Abstract]
  51. "Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations."J. Inherit. Metab. Dis. 20:67-73(1997) [PubMed] [Europe PMC] [Abstract]
  52. "D409H/D409H genotype in Gaucher-like disease."J. Med. Genet. 34:175-175(1997) [PubMed] [Europe PMC] [Abstract]
  53. "Six new Gaucher disease mutations."Acta Haematol. 99:80-82(1998) [PubMed] [Europe PMC] [Abstract]
  54. "Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease."Am. J. Hum. Genet. 63:415-427(1998) [PubMed] [Europe PMC] [Abstract]
  55. "Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient."Am. J. Med. Genet. 78:92-93(1998) [PubMed] [Europe PMC] [Abstract]
  56. "Hematologically important mutations: Gaucher disease."Blood Cells Mol. Dis. 24:2-8(1998) [PubMed] [Europe PMC] [Abstract]
  57. "A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease."Blood Cells Mol. Dis. 24:420-427(1998) [PubMed] [Europe PMC] [Abstract]
  58. "A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs."Clin. Genet. 53:281-285(1998) [PubMed] [Europe PMC] [Abstract]
  59. "Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome."Hum. Mutat. 11:295-305(1998) [PubMed] [Europe PMC] [Abstract]
  60. "A novel mutation (V191G) in a German-British type 1 Gaucher disease patient."Hum. Mutat. 11:411-412(1998) [PubMed] [Europe PMC] [Abstract]
  61. "Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation."Am. J. Med. Genet. 84:334-339(1999) [PubMed] [Europe PMC] [Abstract]
  62. "Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients."Am. J. Med. Genet. 84:484-486(1999) [PubMed] [Europe PMC] [Abstract]
  63. "Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles."Blood Cells Mol. Dis. 25:287-298(1999) [PubMed] [Europe PMC] [Abstract]
  64. "Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?"Eur. J. Hum. Genet. 7:505-509(1999) [PubMed] [Europe PMC] [Abstract]
  65. "Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients."Hum. Mutat. 14:88-88(1999) [PubMed] [Europe PMC] [Abstract]
  66. "Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease."Am. J. Hum. Genet. 66:1777-1786(2000) [PubMed] [Europe PMC] [Abstract]
  67. "Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)."Am. J. Med. Genet. 109:328-331(2002) [PubMed] [Europe PMC] [Abstract]
  68. "The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease."Hum. Mutat. 19:458-459(2002) [PubMed] [Europe PMC] [Abstract]
  69. "Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian Gaucher patients."Hum. Mutat. 20:234-235(2002) [PubMed] [Europe PMC] [Abstract]
  70. "Gaucher's disease with Parkinson's disease: clinical and pathological aspects."Neurology 61:99-101(2003) [PubMed] [Europe PMC] [Abstract]
  71. "Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype."Eur. J. Hum. Genet. 12:975-978(2004) [PubMed] [Europe PMC] [Abstract]
  72. "The N370S (Asn370->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C."Biochem. J. 390:95-103(2005) [PubMed] [Europe PMC] [Abstract]
  73. "Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1."Hum. Mutat. 25:100-100(2005) [PubMed] [Europe PMC] [Abstract]
  74. "Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation."Neurology 65:1460-1461(2005) [PubMed] [Europe PMC] [Abstract]
  75. "Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients."Arch. Neurol. 64:1056-1058(2007) [PubMed] [Europe PMC] [Abstract]
  76. "Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders."Arch. Neurol. 65:379-382(2008) [PubMed] [Europe PMC] [Abstract]
  77. "Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease." N. Engl. J. Med. 361:1651-1661(2009) [PubMed] [Europe PMC] [Abstract]