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ARSB

arylsulfatase B

The ARSB gene encodes the enzyme arylsulfatase B, which plays a vital role in the breakdown of complex sugar molecules within cells. The ARSB gene provides the blueprint for arylsulfatase B, an enzyme essential for cellular waste recycling.

Chromosome 5q14.1 Autosomal recessive HGNC:714 Tier C
ARSB 5q14.1 p arm q arm 5

ARSB is located on the long (q) arm of chromosome 5, at band 5q14.1. Arm ratio per GRCh38 - banding schematic.

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Clinical tests that include this

Carrier Screening panel
ARSB is 1 of 1,008 genes on this panel
Expanded carrier screening for recessive and X-linked conditions
Newborn Genetic Screening panel
ARSB is 1 of 258 genes on this panel
Genomic newborn screening for actionable paediatric conditions

Overview

The ARSB gene, also known as arylsulfatase B, provides instructions for creating a critical enzyme involved in the body's metabolic processes. This enzyme is primarily responsible for breaking down large sugar molecules called glycosaminoglycans (GAGs) within cellular compartments known as lysosomes. Understanding the function of the ARSB gene is important for comprehending the basis of certain inherited metabolic disorders.

What the gene does

The ARSB gene's primary role is to produce the arylsulfatase B enzyme. This enzyme is located within lysosomes, which are organelles responsible for cellular digestion and recycling. Specifically, arylsulfatase B works to remove a sulfate chemical group from two types of GAGs: dermatan sulfate and chondroitin sulfate. This enzymatic action is crucial for the proper breakdown and recycling of these complex sugar molecules. If the arylsulfatase B enzyme is not functional, these GAGs can accumulate in various tissues and organs, leading to cellular dysfunction and a range of health issues.

Video: Genetics 101

Chromosome location

The ARSB gene is situated on chromosome 5, specifically at position 5q14.1. This location refers to the long (q) arm of chromosome 5, within band 14.1. The gene contains multiple exons, which are the coding regions that provide the instructions for protein synthesis.

Protein structure

The arylsulfatase B protein consists of 533 amino acids. Domain architecture has not been experimentally characterised in detail for this protein, however, its structure is crucial for its enzymatic activity in breaking down glycosaminoglycans.

Key variants

Variants within the ARSB gene can affect the production or function of the arylsulfatase B enzyme. These genetic changes can range from single nucleotide substitutions to larger deletions or insertions, all of which may impact the enzyme's ability to properly process glycosaminoglycans. Over 130 different variants have been identified that are associated with inherited conditions.

The table below shows the top 10 pathogenic or likely-pathogenic variants currently classified in ClinVar for ARSB.
View all on ClinVar →

Sample of pathogenic variants

10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.

Variant (HGVS) Protein change Classification Evidence Associated condition
c.1060_1061del
Deletion
 p.Leu354fs Pathogenic/Likely pathogenic ★★☆☆ Mucopolysaccharidosis type 6
c.1142+1G>A
single nucleotide variant
 - Pathogenic ★★☆☆ Mucopolysaccharidosis type 6
c.1143-1G>A
single nucleotide variant
 - Pathogenic/Likely pathogenic ★★☆☆ Mucopolysaccharidosis type 6
c.1314G>A
single nucleotide variant
 p.Trp438Ter Pathogenic/Likely pathogenic ★★☆☆ Mucopolysaccharidosis type 6
c.1325C>G
single nucleotide variant
 p.Thr442Arg Pathogenic/Likely pathogenic ★★☆☆ Mucopolysaccharidosis type 6
c.1350G>T
single nucleotide variant
 p.Trp450Cys Pathogenic/Likely pathogenic ★★☆☆ Mucopolysaccharidosis type 6
c.1539C>A
single nucleotide variant
 p.Tyr513Ter Pathogenic ★★☆☆ Mucopolysaccharidosis type 6
c.352_365dup
Duplication
 p.Pro123fs Pathogenic/Likely pathogenic ★★☆☆ Mucopolysaccharidosis type 6
c.359dup
Duplication
 p.Ser120fs Pathogenic/Likely pathogenic ★★☆☆ Mucopolysaccharidosis type 6
c.982G>A
single nucleotide variant
 p.Gly328Arg Pathogenic/Likely pathogenic ★★☆☆ Mucopolysaccharidosis type 6

Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.

Associated conditions

Pathogenic variants in the ARSB gene are known to cause Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). This is an autosomal recessive lysosomal storage disorder where the body is unable to break down specific complex sugars, leading to their accumulation in cells and tissues throughout the body. The severity of Mucopolysaccharidosis type VI can vary depending on the specific genetic variant(s) inherited.

Inheritance pattern

Conditions caused by pathogenic ARSB variants typically follow autosomal recessive inheritance.

♀ Carrier parent 1 altered copy ♂ Carrier parent 1 altered copy Affected Carrier Carrier Unaffected Affected Carrier Unaffected Circles = females · Squares = males

When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.

Carrier frequency by population How common is heterozygous ARSB carrier status across ancestry groups?

UK clinical status

The ARSB gene is recognised in the UK for its clinical significance through several NHS Genomic Medicine Service national panels. It is included in panels such as DDG2P, Foetal anomalies (R21), Hydrocephalus (R86), Intellectual disability, Likely inborn error of metabolism (R98), Lysosomal storage disorder (R276), Mucopolysaccharideosis, Gaucher, Fabry, Mucopolysaccharidosis type VI (R290), Rare syndromic craniosynostosis or isolated multisuture synostosis (R100), Skeletal dysplasia (R104), and Undiagnosed metabolic disorders.

Green-listed
High evidence · clinically actionable in NHS testing
Included in NHS GMS signed-off panels
Fetal anomalies · R21 NHS GMS → Hydrocephalus · R86 NHS GMS → Likely inborn error of metabolism · R98 NHS GMS → Lysosomal storage disorder · R276 NHS GMS → Mucopolysaccharidosis type VI · R290 NHS GMS → Rare syndromic craniosynostosis or isolated multisuture synostosis · R100 NHS GMS → Skeletal dysplasia · R104 NHS GMS → DDG2P NHS GMS →
NHS Genomic Medicine Service Jeen carrier screening

Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory

Frequently asked questions

What is the main function of the ARSB gene?

The ARSB gene provides instructions for making the arylsulfatase B enzyme, which is crucial for breaking down complex sugar molecules called glycosaminoglycans within cellular lysosomes.

What condition is associated with ARSB gene variants?

Variants in the ARSB gene are associated with Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), a lysosomal storage disorder characterised by the accumulation of specific sugar molecules in the body.

How does the ARSB gene contribute to health problems?

When the ARSB gene has pathogenic variants, the resulting enzyme may be deficient or non-functional, leading to the build-up of glycosaminoglycans like dermatan sulfate and chondroitin sulfate, which can harm various tissues and organs.

References

  1. Tessitore A, Pirozzi M, Auricchio A. Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. PathoGenetics. 2009. PMID: 19531206
  2. Clarke LA. The mucopolysaccharidoses: a success of molecular medicine. Expert reviews in molecular medicine. 2008. PMID: 18201392
  3. Garrido E, Cormand B, Hopwood JJ. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Molecular genetics and metabolism. 2008. PMID: 18406185
  4. Karageorgos L, Brooks DA, Pollard A. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Human mutation. 2007. PMID: 17458871
  5. Garrido E, Chabás A, Coll MJ. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Molecular genetics and metabolism. 2007. PMID: 17643332
  6. Litjens T, Hopwood JJ. Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Human mutation. 2001. PMID: 11668612
Educational content. This page is not medical or genetic advice, is not individually reviewed by a clinician for each reader, and should not replace a consultation with a qualified healthcare professional or genetic counsellor. If you are considering genetic testing or acting on a test result, book a consultation.
Data sources Last updated 4 October 2026. Content compiled from HGNC · MedlinePlus Genetics · ClinGen · Genomics England PanelApp · NHS National Genomic Test Directory · ClinVar · UniProt · AlphaFold .