Gene: ARSB

Alternate names for this Gene: ASB|G4S|MPS6

Gene Summary: Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.1

Description of this Gene: arylsulfatase B

Type of Gene: protein-coding

rs672413 in ARSB gene and Arylsulfatase B measurement PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs13159135 in ARSB gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs11748603 in ARSB gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs118203941 in ARSB gene and Leukodystrophy, Metachromatic PMID 17458871 2007 Mutational analysis of 105 mucopolysaccharidosis type VI patients.

PMID 1550123 1992 Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

PMID 8116615 1994 Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

PMID 21514195 2011 Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene.

PMID 23557332 2013 Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

PMID 8723688 1996 Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.

PMID 16435196 2005 Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

rs1028653411 in ARSB gene and Mucopolysaccharidosis VI PMID 17458871 2007 Mutational analysis of 105 mucopolysaccharidosis type VI patients.

PMID 17161971 2007 Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.

PMID 24262793 2014 Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy.

PMID 22405600 2012 Expert recommendations for the laboratory diagnosis of MPS VI.

PMID 1550123 1992 Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

PMID 8651289 1996 Three of the five mutations (R95Q, Y210C, and H393P) were observed in >1 of 25 unrelated MPS-VI patients; however, the mutations were not found in 20 control individuals.

PMID 17643332 2007 Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.

PMID 22133300 2012 Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.

PMID 21791832 2010 Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series.

PMID 21514195 2011 Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene.

PMID 10923267 2000 [Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients].

PMID 14974081 2004 Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.

PMID 21917494 2011 Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype.

PMID 24221504 2014 The majority of MPS VI patients reported so far as relatively attenuated presented with an essentially osteoarticular phenotype associated with the p.Y210C mutation.

PMID 23657977 2013 Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.

PMID 24373060 2014 Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.

PMID 23557332 2013 Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

PMID 22441840 2012 Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.

PMID 8651289 1996 Three of the five mutations (R95Q, Y210C, and H393P) were observed in >1 of 25 unrelated MPS-VI patients; however, the mutations were not found in 20 control individuals.

PMID 8125475 1994 Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

PMID 26937411 2015 Mutations in ARSB in MPS VI patients in India.

PMID 27797586 2017 Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.

PMID 24677745 2014 Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.

PMID 24053568 2013 A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

PMID 28884960 2017 Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.

PMID 24875751 2014 Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

PMID 25190157 2014 [Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].

PMID 25654180 2015 Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

PMID 26909334 2016 Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

PMID 24243352 2014 Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

PMID 16949067 2006 Two novel mutations of the arylsulfatase B gene in a Chinese MPS VI child undergoing bone marrow transplantation therapy.

PMID 26609033 2015 Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

PMID 28914427 2018 The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.

PMID 21930407 2011 Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI.

PMID 8723688 1996 Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.

PMID 27826022 2017 Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).

PMID 21791831 2010 Skeletal complications in mucopolysaccharidosis VI patients: Case reports.

PMID 8651289 1996 Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.

PMID 19259130 2009 Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

PMID 11802522 2001 Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.

PMID 8116615 1994 Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

PMID 8541342 1995 N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.

PMID 10738004 2000 A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

PMID 10036316 1999 Maroteaux-lamy syndrome: five novel mutations and their structural localization.

PMID 1718978 1991 Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.

PMID 17672828 2008 Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.

PMID 16435196 2005 Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

PMID 8752530 1996 [A novel nonsense point mutation in the arylsulfatase B gene with a severe type Maroteaux-Lamy syndrome].

PMID 24798265 2015 Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

PMID 18406185 2008 Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.

PMID 21813902 2011 Enzyme replacement therapy for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): experience in Hong Kong.

PMID 15603718 2004 A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI.

PMID 24107440 2013 Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.

PMID 21996138 2011 Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.

PMID 28649537 2015 Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children.

PMID 10206678 1998 Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online.

PMID 18486607 2008 Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.

PMID 1301949 1992 An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype.

PMID 23458163 2014 Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings.

PMID 26910003 2016 Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings.

PMID 7733883 1995 Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein.

PMID 28552677 2017 A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 23430861 2012 Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI.

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

PMID 28858097 2017 How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports.

PMID 23949968 2013 Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

PMID 20143913 2010 Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation.

PMID 23633437 2013 Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.

PMID 22133300 2012 High prevalence of p.R152W mutation in Poland, Belarus and Baltic States indicates a possible founder effect and suggests that screening for this mutation may be appropriate in MPS VI patients from this region.

PMID 24221504 2014 Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.

rs672413 in ARSB gene and Selenium measurement PMID 25343990 2015 Genome-wide association study of selenium concentrations.