ARSB

Chr 5AR

arylsulfatase B

Also known as: ASB, G4S, MPS6

NCBI Gene: 411ENSG00000113273UniProt: P15848OMIM: 611542

The arylsulfatase B homodimer hydrolyzes sulfate groups from N-acetyl-D-galactosamine, chondroitin sulfate, and dermatan sulfate within lysosomes. Mutations cause mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), an autosomal recessive lysosomal storage disorder resulting from arylsulfatase B deficiency. The pathogenic mechanism involves dominant-negative effects from mutant protein.

OMIMResearchSummary from RefSeq, OMIM, UniProt, Mechanism
LOFmechanismARLOEUF 1.061 OMIM phenotype
Clinical Summary— ARSB
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Gene-Disease Validity (ClinGen)
mucopolysaccharidosis type 6 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
222 unique Pathogenic / Likely Pathogenic· 257 VUS of 868 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.06LOEUF
pLI 0.000
Z-score 1.33
OE 0.70 (0.47–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.63Z-score
OE missense 0.89 (0.81–0.99)
254 obs / 283.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.70 (0.47–1.06)
0≤0.351.4
Missense OE0.89 (0.81–0.99)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 16 / 22.9Missense obs/exp: 254 / 283.9Syn Z: 0.52
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveARSB-related mucopolysaccharidosisLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.7229th %ile
GOF
0.6247th %ile
LOF
0.2874th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

868 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic90
Likely Pathogenic132
VUS257
Likely Benign281
Benign57
Conflicting43
90
Pathogenic
132
Likely Pathogenic
257
VUS
281
Likely Benign
57
Benign
43
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
58
10
22
0
90
Likely Pathogenic
70
53
9
0
132
VUS
2
167
81
7
257
Likely Benign
1
6
95
179
281
Benign
0
4
46
7
57
Conflicting
—43
Total131240253193860

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ARSB · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases
Tobacman JK et al.·Int J Mol Sci
2022
Exogenous recombinant N-acetylgalactosamine-4-sulfatase (Arylsulfatase B; ARSB) inhibits progression of B16F10 cutaneous melanomas and modulates cell signaling
Bhattacharyya S et al.·Biochim Biophys Acta Mol Basis Dis
2023
Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry
Vechkasova AO et al.·World J Clin Pediatr
2025
Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene
Al Dhahouri N et al.·Front Pediatr
2022Case report
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).
Marek-Yagel D et al.·Am J Med Genet A
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Prognostic modeling of early-onset nondistal gastric cancer identifies ARSB-PDCD1 ratio as an immune-related survival stratifier.
Zhang Z et al.·Front Immunol
2025Open AccessFunctional
Interactions of CFTR and Arylsulfatase B (ARSB; N-acetylgalactosamine-4-sulfatase) in Prostate Carcinoma.
Bhattacharyya S et al.·Int J Mol Sci
2025Open Access
Arsenic efflux and bioremediation potential of Klebsiella oxytoca via the arsB gene.
Waqar S et al.·PLoS One
2025Open Access
Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients.
Bychkov I et al.·Hum Mutat
2025Open AccessCohort
Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices.
Huang Y et al.·Front Genet
2024Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients