Property Summary

NCBI Gene PubMed Count 111
PubMed Score 316.04
PubTator Score 650.38

Knowledge Summary


No data available


  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma -2.200 1.0e-05
osteosarcoma -1.652 1.0e-07

 GWAS Trait (1)

Protein-protein Interaction (5)

Gene RIF (40)

25297594 Data indicate a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the arylsulfatase A (ARSA) gene and the phenotype OF metachromatic leukodystrophy.
24989669 We report three families with Arylsulphatase A partial deficit in which we can find a high recurrence of parkinsonism among the siblings.
24001781 Sixteen novel mutations that cause metachromatic leukodystrophy have been identified in the arylsulfatase A gene.
23689179 Arylsulphatase A activity in human endometrial polyps inversely correlates with aging
23247813 HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition, such as arylsulfatase A and SPAM1.
23209833 The interaction between SPAM1, ARSA and HSPA2 in a multimeric complex mediating sperm-egg interaction.
23192358 Studied brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the human insulin receptor.
21966540 This is the first report that human adipocytes express functional DAR and ARSA, suggesting a regulatory role for peripheral DA in adipose functions.
21695197 The purpose was to estimate the birth prevalence of Metachromatic leukodystrophy in Poland by determining population frequency of the common pathogenic ARSA gene mutations and to compare this estimate with epidemiological data.
21648305 The presence of two most common mutations associated with Arylsulfatase A pseudodeficiency was analyzed in 56 patients with diagnosis of relapsing-remitting multiple sclerosis, by polymerase chain reaction restriction fragment length polymorphism method.
21454621 cationization of ASA and an increase of the mannose 6-phosphate content of the enzyme may promote blood-to-brain transfer of ASA, thus leading to an improved therapeutic efficacy of enzyme replacement therapy behind the BBB.
21265945 case report of missense mutations p.G99D and p.T409I associated with adult-type metachromatic leukodystrophy
21167507 ARSA mutations in the Indian population were characterized. 4 new variant & 5 pseudodeficiency alleles were found. Protein modeling showed loss of interactions leading to conformation change.
19606494 characterized eight newly identified ARSA mutations, through lentiviral vector-based expression studies on cell lines and ARSA defective murine fibroblasts. The residual activity associated with the new mutant allele correlates well with the phenotype
19224915 Saposin B(Sap B) is not a limiting factor of the coupled Sap B-ASA reaction in mouse kidney cells even if sulfatide has accumulated to unphysiologically high levels
19054018 We report on two patients with mental retardation, dysmorphic features and low catalytic activity of arylsulfatase A which is because of were explained, in each patients, by a deletion of 22q13 and, thereby, of one allele of ARSA.
19021637 the novel Metachromatic leukodystrophy- causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form Metachromatic leukodystrophy
18768108 DNA sequencing revealed two novel disease-causing missense mutations in the arylsulfatase gene in patients with metachromatic leukodystrophy
18693274 11 novel ARSA alleles in Italian patients with metachromatic leukodystrophy are described.
18248830 R95Q, G144R, H393P, & C521Y cause large structural changes, & are associated with the severe phenotype of mucopolysaccharidosis VI. G137V & Y210C are thought to cause small structural changes in a limited region resulting in the attenuated phenotype.
17845130 Safety of ARSA overexpression for gene therapy of metachromatic leukodystrophy was evaluated.
17660863 Induction of tolerance to human ARSA in a mouse model of metachromatic leukodystrophy is reported.
17560502 Six DNA variants of the arylsulfatase A gene were identified: two novel frameshift mutations (c.179_180dupCA and c.1338dupC), one known nonsense mutation (p.W318X), and three known missense mutations (p.R84Q, p.G99V, and p.R288C)
17329011 decidual levels of arylsulphatase A showed very low values at 41 weeks, which reduced to a half at 42 weeks of gestation
16678723 Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy
16311251 Adeno-associated virus serotype 5-mediated brain delivery of ARSA is a potentially efficacious therapeutic strategy for metachromatic leukodystrophy patients, especially for those with rapidly progressive form of the disease.
16140556 Observational study of genotype prevalence. (HuGE Navigator)
16110195 Homozygote for mutation of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy
15772092 Enzyme replacement therapy, using ARSA, improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy.
15710861 Genetic analysis revealed homozygosity for a novel mutation in exon 3 of ARSA (F219V).
15375602 missense mutation in which actual pathogenic effect was splicing-related by disrupting a potential exonic splicing enhancer (ESE) and causing a complete exon 7 skipping
15026521 Metachromatic leukodystrophy Molecular analysis revealed compound heterozygosity for two novel missense mutations affecting conserved residues in the arylsulphatase A (ASA) sulphatase and carboxyterminal domains, with 89% loss of enzymatic activity.
12888274 Structures of human arylsulfatase A crystals soaked in solutions containing 4-methylumbelliferyl phosphate and O-phospho-DL-tyrosine have been determined at 2.7- and 3.2-A resolution, respectively. Phosphate and calcium binding sites are identified.
12788103 the reduced lysosomal half-life of some mutated forms of ARSA is related to deficient octamerization
12473917 Observational study of genotype prevalence. (HuGE Navigator)
12459318 Observational study of gene-disease association. (HuGE Navigator)
12459318 analysis of arylsulfatase A mutations demonstrates a lack of association with Alzheimer-type dementia or Down syndrome
11941485 contribution of mutations to enzyme activity reduction and metachromatic leukodystrophy severity
11857580 Observational study of gene-disease association. (HuGE Navigator)
11333871 Multiple alleles in a subject unaffected with metachromatic leucodystrophy

AA Sequence

PGCTPRPACCHCPDPHA                                                         491 - 507

Text Mined References (126)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25416956 2014 A proteome-scale map of the human interactome network.
25297594 2014 [Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy].
24989669 2014 Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
24816252 2014 An atlas of genetic influences on human blood metabolites.
24001781 2013 Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
23969696 2013 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
23689179 2013 Arylsulphatase A activity in human endometrial polyps inversely correlates with aging.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23247813 2013 Investigation of the mechanisms by which the molecular chaperone HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition.
23209833 2012 The molecular chaperone HSPA2 plays a key role in regulating the expression of sperm surface receptors that mediate sperm-egg recognition.
23192358 2013 Pharmacokinetics and brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the human insulin receptor.
21966540 2011 Dopamine receptors in human adipocytes: expression and functions.
21695197 2011 Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?
21648305 2011 Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21454621 2011 Transport of arylsulfatase A across the blood-brain barrier in vitro.
21265945 2011 Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
21167507 2011 Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
20339381 2010 Molecular bases of metachromatic leukodystrophy in Polish patients.
19606494 2009 Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
19262745 2009 Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19.
19224915 2009 Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19054018 2009 Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
19021637 2009 Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
18768108 2009 Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy.
18693274 2008 Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
18248830 2008 Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17845130 2007 Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy.
17660863 Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy.
17560502 2007 ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.
17329011 2007 Biochemical determinations of arylsulphatase A activity and sulphatide concentrations in decidua of women at 41 and 42 weeks of gestation.
16782379 Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.
16678723 2006 Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
16368756 2006 A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
16311251 2006 Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.
16140556 2005 Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
16110195 2005 Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type.
15962010 2005 Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.
15772092 2005 Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy.
15710861 2005 Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
15375602 2004 ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15326627 2004 Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
15188402 2004 Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry.
15146462 2004 Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15026521 2004 Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14680985 2003 Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
14571263 2004 An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.
14517960 2003 Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
12888274 2003 Crystal structure of a covalent intermediate of endogenous human arylsulfatase A.
12788103 2003 Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T.
12503099 2003 Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12473917 2002 Allelic variation and environmental lead exposure in urban children.
12459318 Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome.
12081727 2002 High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy.
11941485 2002 Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
11857580 2002 Evidence for an N-glycosylation polymorphism of arylsulfatase a predisposing to alcoholism in Koreans.
11777924 2002 Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy.
11456299 2001 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.
11333871 2001 Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism.
11124905 2001 Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis.
11061266 2000 Adult-onset MLD: a gene mutation with isolated polyneuropathy.
11020646 2000 Variable onset of metachromatic leukodystrophy in a Vietnamese family.
10751093 2000 Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
10591208 1999 The DNA sequence of human chromosome 22.
10533072 1999 Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.
10493829 1999 Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
10477432 1999 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.
10381328 1999 Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
10359658 1999 Phosphorylation of arylsulphatase A occurs through multiple interactions with the UDP-N-acetylglucosamine-1-phosphotransferase proximal and distal to its retrieval site by the KDEL receptor.
10220151 1999 Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.
9888390 1999 Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.
9819708 1998 Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.
9744473 1998 The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.
9668161 1998 Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.
9600244 1998 Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.
9521684 1998 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.
9490297 1998 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.
9452102 1998 Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.
9272717 1997 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.
9090526 1997 Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
8891236 Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8723680 1996 Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
8104633 1993 An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
8101083 Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.
8101038 1993 High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
8095918 1993 Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.
7981715 1994 Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
7909527 1994 Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.
7906588 1993 Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
7902317 1993 An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
7866401 1994 Molecular genetics of metachromatic leukodystrophy.
7860068 1995 A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.
7858169 1994 Late infantile metachromatic leukodystrophy in Israel.
7833949 1994 Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
7825603 1995 Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.
7815433 1994 Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.
7628016 1995 A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
7581401 1995 Identification of seven novel mutations associated with metachromatic leukodystrophy.
7192199 1980 Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22.
2574462 1989 Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
2562955 1989 Cloning and expression of human arylsulfatase A.
1975241 1990 Structure of the arylsulfatase A gene.
1684088 1991 Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
1678251 1991 Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
1676699 1991 An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy.
1674719 1991 Population frequency of the arylsulphatase A pseudo-deficiency allele.
1673291 1991 Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
1670590 1991 Molecular basis of different forms of metachromatic leukodystrophy.
1357970 1992 Diagnosis of arylsulfatase A deficiency.
1353340 1992 Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
1352993 1992 Proteolytic processing of human lysosomal arylsulfatase A.
1352356 1992 Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
36611 1979 Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B.