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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARSB
arylsulfatase B
Chromosome 5 Β· 5q14.1
NCBI Gene: 411Ensembl: ENSG00000113273.18HGNC: HGNC:714UniProt: A8K4A0
85PubMed Papers
22Diseases
0Drugs
258Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of epithelial cell migrationcolon epithelial cell migrationN-acetylgalactosamine-4-sulfatase activityextracellular exosomemucopolysaccharidosis type 6mucopolysaccharidosismetachromatic leukodystrophygenetic disorder
✦AI Summary

ARSB encodes arylsulfatase B, a lysosomal enzyme that catalyzes the hydrolysis of 4-sulfate groups from N-acetylgalactosamine residues on glycosaminoglycans, particularly dermatan sulfate and chondroitin-4-sulfate 1. The enzyme contains a catalytically essential formylglycine residue that is posttranslationally modified to hydroxylformylglycine, enabling sulfate ester bond hydrolysis 2. Beyond degradative function, ARSB regulates cell adhesion, migration, and invasion in colonic epithelium, and modulates neurite outgrowth and neuronal plasticity through control of sulfated glycosaminoglycans 3. ARSB deficiency causes Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), an autosomal recessive lysosomal storage disorder characterized by progressive multisystem involvement, skeletal dysplasia, cardiac valve disease, and variable neurological complications, with prevalence between 1 in 43,261 and 1 in 1,505,160 live births 1. Over 130 ARSB mutations have been reported, predominantly missense variants (85% of mutations), causing absent or severely reduced enzyme activity 4. ARSB is clinically significant as a candidate gene for newborn genome sequencing, recommended by 85% of rare disease experts for early detection of treatable MPS VI cases 5. Enzyme replacement therapy with galsulfase provides the primary treatment, improving endurance and mobility in affected individuals 1.

Sources cited
1
ARSB removes sulfate groups from chondroitin-4-sulfate and regulates cell adhesion, migration, and invasion in colonic epithelium
PMID: 19306108
2
ARSB deficiency causes MPS VI with progressive multisystem involvement including skeletal dysplasia and cardiac disease; birth prevalence between 1 in 43,261 and 1 in 1,505,160
PMID: 20385007
3
ARSB catalyzes sulfate ester hydrolysis through a posttranslationally modified formylglycine residue
PMID: 16399355
4
ARSB mutations are predominantly missense (85%) with significant heterogeneity; study identified 4 novel mutations in MPS VI patients
PMID: 22976768
5
ARSB recommended by 85% of rare disease experts for inclusion in newborn genome sequencing for treatable conditions
PMID: 37155167
Disease Associationsβ“˜22
mucopolysaccharidosis type 6Open Targets
0.87Strong
mucopolysaccharidosisOpen Targets
0.51Moderate
metachromatic leukodystrophyOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.45Moderate
Multiple sulfatase deficiencyOpen Targets
0.37Weak
mucopolysaccharidosis type 6, rapidly progressingOpen Targets
0.37Weak
mucopolysaccharidosis type 6, slowly progressingOpen Targets
0.37Weak
frozen shoulderOpen Targets
0.32Weak
digestive system neoplasmOpen Targets
0.29Weak
cervical carcinomaOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.25Weak
ankylosing spondylitisOpen Targets
0.25Weak
atrophic gastritisOpen Targets
0.24Weak
HypercholesterolemiaOpen Targets
0.23Weak
kidney diseaseOpen Targets
0.23Weak
chronic laryngitisOpen Targets
0.23Weak
schizophreniaOpen Targets
0.11Weak
Coxa VaraOpen Targets
0.08Suggestive
Blount diseaseOpen Targets
0.08Suggestive
Absent tibia - polydactylyOpen Targets
0.08Suggestive
Mucopolysaccharidosis 6UniProt
Multiple sulfatase deficiencyUniProt
Pathogenic Variants258
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2026β†’ Residue 313
NM_000046.5(ARSB):c.359dup (p.Ser120fs)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2026β†’ Residue 120
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2026β†’ Residue 160
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)Pathogenic
Mucopolysaccharidosis type 6|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 152
NM_000046.5(ARSB):c.511G>A (p.Gly171Ser)Likely pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2026β†’ Residue 171
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)Pathogenic
Mucopolysaccharidosis type 6|not provided|Metachromatic leukodystrophy|ARSB-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 210
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)Pathogenic
Mucopolysaccharidosis type 6|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 450
NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2026β†’ Residue 513
NM_000046.5(ARSB):c.1178A>G (p.His393Arg)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2025β†’ Residue 393
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2025β†’ Residue 328
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2025β†’ Residue 146
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)Pathogenic
not provided|Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2025β†’ Residue 483
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2025β†’ Residue 160
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)Pathogenic
not provided|Mucopolysaccharidosis type 6|ARSB-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 315
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2025β†’ Residue 512
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2025β†’ Residue 327
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2025β†’ Residue 144
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2025β†’ Residue 37
NM_000046.5(ARSB):c.427del (p.Val143fs)Pathogenic
Mucopolysaccharidosis type 6
β˜…β˜…β˜†β˜†2025β†’ Residue 143
NM_000046.5(ARSB):c.121dup (p.Ala41fs)Pathogenic
Mucopolysaccharidosis type 6|ARSB-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 41
View on ClinVar β†—
Related Genes
SUMF1Protein interaction96%ARSAProtein interaction95%HYAL1Protein interaction95%SPAM1Protein interaction94%ARSGProtein interaction92%HYAL3Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
65%
Lung
60%
Brain
42%
Liver
40%
Ovary
23%
Gene Interaction Network
Click a node to explore
ARSBSUMF1ARSAHYAL1SPAM1ARSGHYAL3
PROTEIN STRUCTURE
Preparing viewer…
PDB1FSU Β· 2.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.63–1.03]
RankingsWhere ARSB stands among ~20K protein-coding genes
  • #5,591of 20,598
    Most Researched85
  • #250of 5,498
    Most Pathogenic Variants258 Β· top 5%
  • #10,219of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedARSB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
PMID: 22976768
J Inherit Metab Dis Β· 2013
1.00
2
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
PMID: 37239976
Int J Mol Sci Β· 2023
0.90
3
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
PMID: 30118150
Hum Mutat Β· 2018
0.80
4
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
PMID: 37155167
JAMA Netw Open Β· 2023
0.70
5
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
PMID: 32985704
Anim Genet Β· 2020
0.60