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Galactosidase Alpha (GLa)

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GALA; GL-A; Alpha-D-Galactoside Galactohydrolase; Alpha-D-Galactosidase A; Melibiase; Agalsidase

Galactosidase Alpha (GLa)
CCC A183
HGNC 4296
MGI 1347344
PubMed 19940122
RGD 1589721
UniProt P06280
Wiki GLA

Alpha-galactosidase is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It is encoded by the GLA gene. This enzyme is a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry's disease, a rare lysosomal storage disorder and sphingolipidosis that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. Genzyme produces synthetic agalsidase beta under the brand name Fabrazyme for treatment of Fabry's disease.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA183Hu01 Recombinant Galactosidase Alpha (GLa) Positive Control; Immunogen; SDS-PAGE; WB.
RPA183Hu02 Recombinant Galactosidase Alpha (GLa) Positive Control; Immunogen; SDS-PAGE; WB.
RPA183Hu03 Recombinant Galactosidase Alpha (GLa) Positive Control; Immunogen; SDS-PAGE; WB.
RPA183Hu04 Recombinant Galactosidase Alpha (GLa) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA183Hu01 Polyclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC; IP; FCM
PAA183Hu03 Polyclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC; IP.
PAA183Hu02 Polyclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC; IP; FCM
LAA183Hu71 Biotin-Linked Polyclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC.
LAA183Hu81 FITC-Linked Polyclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC; IF.
MAA183Hu21 Monoclonal Antibody to Galactosidase Alpha (GLa) WB; IHC
MAA183Hu22 Monoclonal Antibody to Galactosidase Alpha (GLa) WB; IHC
LAA183Hu72 Biotin-Linked Monoclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC.
LAA183Hu82 FITC-Linked Monoclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC; IF.
PAA183Hu04 Polyclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC; IP.
MAA183Hu25 Monoclonal Antibody to Galactosidase Alpha (GLa) WB,IHC
MAA183Hu27 Monoclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC; IP.
MAA183Hu29 Monoclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC; IP.
MAA183Hu23 Monoclonal Antibody to Galactosidase Alpha (GLa) WB
MAA183Hu24 Monoclonal Antibody to Galactosidase Alpha (GLa) WB
MAA183Hu26 Monoclonal Antibody to Galactosidase Alpha (GLa) WB
Assay Kits SEA183Hu ELISA Kit for Galactosidase Alpha (GLa) Enzyme-linked immunosorbent assay for Antigen Detection.
SCA183Hu CLIA Kit for Galactosidase Alpha (GLa) Chemiluminescent immunoassay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA183Mu01 Recombinant Galactosidase Alpha (GLa) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA183Mu01 Polyclonal Antibody to Galactosidase Alpha (GLa) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Galactosidase Alpha (GLa) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactosidase Alpha (GLa) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Galactosidase Alpha (GLa) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Galactosidase Alpha (GLa) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Galactosidase Alpha (GLa) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Galactosidase Alpha (GLa) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactosidase Alpha (GLa) ELISA Kit Customized Service Offer
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  3. "Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci."Mamm. Genome 6:334-338(1995) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
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  10. "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]
  11. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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  14. "A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser."FEBS Lett. 259:353-356(1990) [PubMed] [Europe PMC] [Abstract]
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  20. "Mutation analysis in patients with the typical form of Anderson-Fabry disease."Hum. Mol. Genet. 2:1051-1053(1993) [PubMed] [Europe PMC] [Abstract]
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  22. "Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene."Hum. Mol. Genet. 3:1795-1799(1994) [PubMed] [Europe PMC] [Abstract]
  23. "Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease."Biochem. Biophys. Res. Commun. 214:1219-1224(1995) [PubMed] [Europe PMC] [Abstract]
  24. "Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins."Hum. Genet. 95:557-561(1995) [PubMed] [Europe PMC] [Abstract]
  25. "Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease."Hum. Mutat. 5:277-278(1995) [PubMed] [Europe PMC] [Abstract]
  26. "An atypical variant of Fabry's disease in men with left ventricular hypertrophy."N. Engl. J. Med. 333:288-293(1995) [PubMed] [Europe PMC] [Abstract]
  27. "Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy."Clin. Nephrol. 45:289-294(1996) [PubMed] [Europe PMC] [Abstract]
  28. "Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries."Eur. J. Hum. Genet. 4:219-224(1996) [PubMed] [Europe PMC] [Abstract]
  29. "Novel trinucleotide deletion in Fabry's disease."Hum. Genet. 97:468-470(1996) [PubMed] [Europe PMC] [Abstract]
  30. "Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease."Hum. Genet. 98:719-726(1996) [PubMed] [Europe PMC] [Abstract]
  31. "A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene."Hum. Mutat. 8:38-43(1996) [PubMed] [Europe PMC] [Abstract]
  32. "Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene."J. Med. Genet. 33:682-688(1996) [PubMed] [Europe PMC] [Abstract]
  33. "Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis."Brain Dev. 19:111-116(1997) [PubMed] [Europe PMC] [Abstract]
  34. "Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes."Mol. Med. 3:174-182(1997) [PubMed] [Europe PMC] [Abstract]
  35. "Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease."Hum. Mutat. 11:328-330(1998) [PubMed] [Europe PMC] [Abstract]
  36. "A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease."Hum. Mutat. Suppl. 1:S139-S140(1998) [PubMed] [Europe PMC] [Abstract]
  37. "Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote."Hum. Mutat. Suppl. 1:S213-S216(1998) [PubMed] [Europe PMC] [Abstract]
  38. "Mutation analysis in 11 French patients with Fabry disease."Hum. Mutat. Suppl. 1:S288-S290(1998) [PubMed] [Europe PMC] [Abstract]
  39. "Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches."Biochem. Biophys. Res. Commun. 257:708-713(1999) [PubMed] [Europe PMC] [Abstract]
  40. "The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A."Clin. Chim. Acta 280:81-89(1999) [PubMed] [Europe PMC] [Abstract]
  41. "Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease."Biochim. Biophys. Acta 1501:227-235(2000) [PubMed] [Europe PMC] [Abstract]
  42. "Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease."Mol. Med. 5:806-811(1999) [PubMed] [Europe PMC] [Abstract]
  43. "Identification of four novel mutations in five unrelated Korean families with Fabry disease."Clin. Genet. 58:228-233(2000) [PubMed] [Europe PMC] [Abstract]
  44. "Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes."J. Invest. Med. 48:227-235(2000) [PubMed] [Europe PMC] [Abstract]
  45. "Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease."Hum. Mutat. 17:353-353(2001) [PubMed] [Europe PMC] [Abstract]
  46. "Fabry disease: 20 novel GLA mutations in 35 families."Hum. Mutat. 18:459-459(2001) [PubMed] [Europe PMC] [Abstract]
  47. "Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course."Medicine (Baltimore) 81:122-138(2002) [PubMed] [Europe PMC] [Abstract]
  48. "Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease."Clin. Genet. 63:205-209(2003) [PubMed] [Europe PMC] [Abstract]
  49. "Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease."Clin. Genet. 63:476-482(2003) [PubMed] [Europe PMC] [Abstract]
  50. "Remarkable variability in renal disease in a large Slovenian family with Fabry disease."Eur. J. Hum. Genet. 12:678-681(2004) [PubMed] [Europe PMC] [Abstract]
  51. "Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography."Hum. Mutat. 25:299-305(2005) [PubMed] [Europe PMC] [Abstract]
  52. "Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome."Arch. Neurol. 63:453-457(2006) [PubMed] [Europe PMC] [Abstract]
  53. "Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)."Hum. Mutat. 30:1397-1405(2009) [PubMed] [Europe PMC] [Abstract]