Arylsulfatase A (ARSA)

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MLD; ASA; Metachromatic Leucodystrophy; Cerebroside-sulfatase

Arylsulfatase A (ARSA)
Arylsulfatase A hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Multiple alternatively spliced transcript variants, one of which encodes a distinct protein, have been described for this gene
The predicted amino acid sequence comprised 507 residues, including a putative signal peptide of 18 residues. The sequence contains 3 potential N-glycosylation sites. The cDNA hybridized to 2.0- and 3.9-kb species in RNA from human fibroblasts and human liver.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPG619Hu01Recombinant Arylsulfatase A (ARSA)SDS-PAGE; WB; ELISA; IP.
AntibodiesMAG619Hu21Monoclonal Antibody to Arylsulfatase A (ARSA)WB, ICC, IHC-P, IHC-F, ELISA
PAG619Hu01Polyclonal Antibody to Arylsulfatase A (ARSA)WB, ICC, IHC-P, IHC-F, ELISA
Assay KitsSEG619HuELISA Kit for Arylsulfatase A (ARSA)Enzyme-linked immunosorbent assay

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Arylsulfatase A (ARSA)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Arylsulfatase A (ARSA)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Arylsulfatase A (ARSA)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Arylsulfatase A (ARSA)CLIA Kit Customized Service Offer
n/aELISA Kit for Arylsulfatase A (ARSA)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Arylsulfatase A (ARSA)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Arylsulfatase A (ARSA)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Arylsulfatase A (ARSA)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Arylsulfatase A (ARSA)CLIA Kit Customized Service Offer
n/aELISA Kit for Arylsulfatase A (ARSA)ELISA Kit Customized Service Offer
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  9. "A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency."Cell 82:271-278(1995) [PubMed] [Europe PMC] [Abstract]
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  12. "Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis."Biochemistry 37:3654-3664(1998) [PubMed] [Europe PMC] [Abstract]
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  22. "High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy."Am. J. Hum. Genet. 53:339-346(1993) [PubMed] [Europe PMC] [Abstract]
  23. "Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy."DNA Cell Biol. 12:493-498(1993) [PubMed] [Europe PMC] [Abstract]
  24. "Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain."Hum. Genet. 91:73-77(1993) [PubMed] [Europe PMC] [Abstract]
  25. "An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A."Hum. Genet. 92:451-456(1993) [PubMed] [Europe PMC] [Abstract]
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  27. "An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy."Hum. Mutat. 2:261-267(1993) [PubMed] [Europe PMC] [Abstract]
  28. "Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing."Hum. Genet. 93:415-420(1994) [PubMed] [Europe PMC] [Abstract]
  29. "Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area."Am. J. Hum. Genet. 56:51-57(1995) [PubMed] [Europe PMC] [Abstract]
  30. "A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme."Hum. Genet. 95:201-204(1995) [PubMed] [Europe PMC] [Abstract]
  31. "Identification of seven novel mutations associated with metachromatic leukodystrophy."Hum. Mutat. 6:170-176(1995) [PubMed] [Europe PMC] [Abstract]
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  34. "A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient."Clin. Genet. 52:65-67(1997) [PubMed] [Europe PMC] [Abstract]
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  36. "A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms."Hum. Genet. 102:50-53(1998) [PubMed] [Europe PMC] [Abstract]
  37. "Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation."Hum. Genet. 102:459-463(1998) [PubMed] [Europe PMC] [Abstract]
  38. ErratumHum. Genet. 102:602-602(1998)
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  40. "Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy."Hum. Mutat. Suppl. 1:S254-S256(1998) [PubMed] [Europe PMC] [Abstract]
  41. "Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations."J. Inherit. Metab. Dis. 21:781-782(1998) [PubMed] [Europe PMC] [Abstract]
  42. "Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity."Hum. Mutat. 13:61-68(1999) [PubMed] [Europe PMC] [Abstract]
  43. "Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC."Hum. Mutat. 13:337-338(1999) [PubMed] [Europe PMC] [Abstract]
  44. "Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients."Hum. Mutat. 14:240-248(1999) [PubMed] [Europe PMC] [Abstract]
  45. "Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case."Hum. Mutat. 14:447-447(1999) [PubMed] [Europe PMC] [Abstract]
  46. "Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease."Mol. Genet. Metab. 67:206-212(1999) [PubMed] [Europe PMC] [Abstract]
  47. "Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy."Am. J. Med. Genet. 91:68-73(2000) [PubMed] [Europe PMC] [Abstract]
  48. "Adult-onset MLD: a gene mutation with isolated polyneuropathy."Neurology 55:1036-1039(2000) [PubMed] [Europe PMC] [Abstract]
  49. "Variable onset of metachromatic leukodystrophy in a Vietnamese family."Pediatr. Neurol. 23:173-176(2000) [PubMed] [Europe PMC] [Abstract]
  50. "Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family."Ann. Neurol. 50:108-112(2001) [PubMed] [Europe PMC] [Abstract]
  51. "Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity."Hum. Genet. 110:351-355(2002) [PubMed] [Europe PMC] [Abstract]
  52. "Biochemical characterization of two (C300F, P425T) arylsulfatase A missense mutations."Am. J. Med. Genet. A 116:238-242(2003) [PubMed] [Europe PMC] [Abstract]
  53. "Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T."Biochem. Biophys. Res. Commun. 306:293-297(2003) [PubMed] [Europe PMC] [Abstract]
  54. "Identification of nine novel arylsulfatase A (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)."Hum. Mutat. 22:418-419(2003) [PubMed] [Europe PMC] [Abstract]
  55. "Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy."Mol. Genet. Metab. 80:360-363(2003) [PubMed] [Europe PMC] [Abstract]
  56. "Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients."Am. J. Med. Genet. A 129:277-281(2004) [PubMed] [Europe PMC] [Abstract]
  57. "Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene."J. Neurol. Neurosurg. Psych. 75:655-657(2004) [PubMed] [Europe PMC] [Abstract]
  58. "Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene."Arch. Neurol. 62:309-313(2005) [PubMed] [Europe PMC] [Abstract]
  59. "Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles."Hum. Mutat. 29:E220-E230(2008) [PubMed] [Europe PMC] [Abstract]
  60. "Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy."Hum. Mutat. 30:E936-E945(2009) [PubMed] [Europe PMC] [Abstract]
  61. "Molecular bases of metachromatic leukodystrophy in Polish patients."J. Hum. Genet. 55:394-396(2010) [PubMed] [Europe PMC] [Abstract]
  62. "Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case."Psychiatry Clin. Neurosci. 65:105-108(2011) [PubMed] [Europe PMC] [Abstract]