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Gene

ARSB

arylsulfatase B

Summary

Cytogenetic location
5q14.1
Coordinates
Chromosome 5: 78,777,209–78,985,310 (GRCh38)
Exons
8 exons across 208.1 kb
Protein
533 amino acids
Inheritance
Autosomal recessive
Also known as
ASB
MANE Select transcript
ENST00000264914.10NM_000046.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)

    • Autosomal recessive

      Deficiency of arylsulfatase B causes dermatan sulfate storage, leading to short stature, joint stiffness, coarse features, corneal clouding, heart valve disease and airway narrowing, with rapidly and slowly progressing forms.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong
      What knowing changes

      Enzyme replacement therapy (galsulfase) is available.

Broader groupings

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How ARSB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where ARSB sits. ARSB and 7 genes near it on chromosome 5, from 78,381,260 to 79,381,259.Chromosome 55q14.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.378.4 Mb78.6 Mb78.8 Mb79 Mb79.2 MbSCAMP1: 78,360,101–78,480,739, forward strandSCAMP1LHFPL2: 78,482,020–78,770,021, reverse strandLHFPL2ARSB: 78,777,209–78,985,310, reverse strandARSBDMGDH: 78,996,960–79,236,038, reverse strandDMGDHBHMT2: 79,069,542–79,090,084, forward strandBHMT2BHMT: 79,111,803–79,132,291, forward strandBHMTJMY: 79,236,095–79,327,215, forward strandJMYHOMER1: 79,372,124–79,514,573, reverse strandHOMER1Diagram of ARSB: 8 exons on the reverse strand of chromosome 5Exon 8: 24 known disease-causing sitesExon 7: 9 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 32 known disease-causing sitesExon 4: 19 known disease-causing sitesExon 3: 21 known disease-causing sitesExon 2: 27 known disease-causing sitesExon 1: 56 known disease-causing sitesExon 8: 78,777,209–78,780,662, 3,454 basesExon 7: 78,781,852–78,781,974, 123 basesExon 6: 78,839,356–78,839,426, 71 basesExon 5: 78,885,584–78,885,827, 244 basesExon 4: 78,955,295–78,955,502, 208 basesExon 3: 78,964,416–78,964,606, 191 basesExon 2: 78,969,006–78,969,192, 187 basesExon 1: 78,984,937–78,985,310, 374 bases864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.9 kb of the gene's 208.1 kb; 1,602 of those bases code for the protein.

How a genome test reads ARSB

216

positions in ARSB where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 208.1 kb of ARSB, introns included, not only the 4.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ARSB gene: arylsulfatase B. Retrieved 16 October 2026, from https://dantelabs.com/genes/arsb

Vancouver

Dante Labs. ARSB gene: arylsulfatase B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/arsb

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