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Gene

ARSA

arylsulfatase A

Summary

Cytogenetic location
22q13.33
Coordinates
Chromosome 22: 50,622,754–50,628,152 (GRCh38)
Exons
8 exons across 5.4 kb
Protein
509 amino acids
Inheritance
Autosomal recessive
Also known as
ASA
MANE Select transcript
ENST00000216124.10NM_000487.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Metachromatic Leukodystrophy

    • Metachromatic leukodystrophy (ARSA and saposin B deficiency)Autosomal recessive

      Loss of arylsulfatase A activity, or of its activator saposin B, causes progressive loss of motor and cognitive skills, with late infantile, juvenile and adult onset forms.

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

      Gene therapy (atidarsagene autotemcel) or stem cell transplantation can help when given before or very early in the course of the disease, so early diagnosis matters.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

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

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

  • 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
      • 8 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 ARSA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where ARSA sits. ARSA and 28 genes near it on chromosome 22, from 50,125,453 to 51,125,452.Chromosome 2222q13.33p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3350.2 Mb50.4 Mb50.6 Mb50.8 Mb51 MbMOV10L1: 50,090,002–50,161,690, forward strandMOV10L1PANX2: 50,170,458–50,180,295, forward strandPANX2TRABD: 50,184,717–50,199,600, forward strandTRABDSELENOO: 50,200,994–50,217,616, forward strandTUBGCP6: 50,217,621–50,245,033, reverse strandHDAC10: 50,245,183–50,251,407, reverse strandHDAC10MAPK12: 50,245,186–50,261,851, reverse strandMAPK12MAPK11: 50,263,703–50,270,767, reverse strandMAPK11PLXNB2: 50,274,976–50,307,695, reverse strandPLXNB2DENND6B: 50,308,989–50,327,661, reverse strandDENND6BPPP6R2: 50,330,659–50,445,090, forward strandPPP6R2SBF1: 50,443,219–50,483,923, reverse strandSBF1ADM2: 50,481,516–50,486,440, forward strandMIOX: 50,486,784–50,490,648, forward strandMIOXLMF2: 50,502,947–50,507,751, reverse strandLMF2NCAPH2: 50,508,127–50,524,781, forward strandSCO2: 50,523,564–50,526,461, reverse strandTYMP: 50,525,752–50,530,326, reverse strandCIMAP1B: 50,529,710–50,532,590, reverse strandCIMAP1BKLHDC7B: 50,545,899–50,551,023, forward strandSYCE3: 50,551,109–50,562,954, reverse strandCPT1B: 50,567,624–50,578,681, reverse strandCPT1BCHKB-CPT1B: 50,568,869–50,582,965, reverse strandCHKB-CPT1BCHKB: 50,578,959–50,601,455, reverse strandCHKBMAPK8IP2: 50,600,659–50,613,981, forward strandMAPK8IP2ARSA: 50,622,754–50,628,152, reverse strandARSASHANK3: 50,674,408–50,733,212, forward strandSHANK3ACR: 50,738,196–50,745,441, forward strandACRRABL2B: 50,767,491–50,783,760, reverse strandRABL2BDiagram of ARSA: 8 exons on the reverse strand of chromosome 22Exon 8: 33 known disease-causing sitesExon 7: 20 known disease-causing sitesExon 6: 15 known disease-causing sitesExon 5: 39 known disease-causing sitesExon 4: 34 known disease-causing sitesExon 3: 50 known disease-causing sitesExon 2: 50 known disease-causing sitesExon 1: 26 known disease-causing sitesExon 8: 50,622,754–50,625,464, 2,711 basesExon 7: 50,625,579–50,625,681, 103 basesExon 6: 50,625,936–50,626,063, 128 basesExon 5: 50,626,154–50,626,278, 125 basesExon 4: 50,626,591–50,626,760, 170 basesExon 3: 50,626,834–50,627,052, 219 basesExon 2: 50,627,166–50,627,406, 241 basesExon 1: 50,627,556–50,628,152, 597 bases876543215′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 4.3 kb of the gene's 5.4 kb; 1,530 of those bases code for the protein.

How a genome test reads ARSA

292

positions in ARSA 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 5.4 kb of ARSA, introns included, not only the 4.3 kb of exons.

Genes linked to the same conditions

Traits linked to ARSA

The Human Phenotype Ontology lists these as features of the rare conditions ARSA can cause. Each trait's page lists the other genes linked to it.

External links

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.). ARSA gene: arylsulfatase A. Retrieved 17 October 2026, from https://dantelabs.com/genes/arsa

Vancouver

Dante Labs. ARSA gene: arylsulfatase A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/arsa

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