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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.
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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  4. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [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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  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]
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  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]
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  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]