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Gene

ASPA

aspartoacylase

Summary

Cytogenetic location
17p13.2
Coordinates
Chromosome 17: 3,475,997–3,503,405 (GRCh38)
Exons
6 exons across 27.4 kb
Protein
313 amino acids
Inheritance
Autosomal recessive
Also known as
ASP, ACY2
MANE Select transcript
ENST00000263080.3NM_000049.4
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

  • Canavan Disease

    • Autosomal recessive

      Deficiency of the enzyme aspartoacylase causes an enlarged head, poor head control, low muscle tone and developmental delay from the first months of life; milder forms also exist.

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

      Diagnosis allows supportive care, carrier testing for relatives and reproductive planning.

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
      • 6 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.

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 ASPA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where ASPA sits. ASPA and 29 genes near it on chromosome 17, from 2,989,701 to 3,989,700.Chromosome 1717p13.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.33 Mb3.2 Mb3.4 Mb3.6 Mb3.8 MbRAP1GAP2: 2,755,629–3,037,741, forward strandRAP1GAP2OR1D5: 3,062,669–3,063,607, reverse strandOR1D5OR1D2: 3,088,484–3,104,422, reverse strandOR1D2OR1G1: 3,126,610–3,127,551, reverse strandOR1G1OR1P1: 3,153,890–3,154,882, reverse strandOR1P1OR1A2: 3,197,519–3,198,448, forward strandOR1A2OR1A1: 3,207,539–3,218,896, forward strandOR1A1OR3A2: 3,276,177–3,386,328, reverse strandOR3A2OR3A1: 3,291,017–3,298,360, reverse strandOR3A1OR1R1: 3,385,930–3,386,874, forward strandOR1R1OR1E1: 3,397,104–3,398,410, reverse strandOR1E1OR3A3: 3,411,370–3,424,070, forward strandOR3A3OR1E2: 3,432,870–3,433,841, reverse strandOR1E2SPATA22: 3,440,011–3,513,852, reverse strandSPATA22ASPA: 3,475,997–3,503,405, forward strandASPATRPV3: 3,510,502–3,557,812, reverse strandTRPV3TRPV1: 3,565,444–3,609,880, reverse strandTRPV1: 3,585,149–3,636,249, reverse strandSHPK: 3,607,433–3,636,637, reverse strandSHPKCTNS: 3,636,446–3,663,103, forward strandCTNSTAX1BP3: 3,659,751–3,668,679, reverse strandTAX1BP3P2RX5-TAX1BP3: 3,663,063–3,696,194, reverse strandEMC6: 3,668,794–3,672,835, forward strandEMC6P2RX5: 3,669,763–3,696,398, reverse strandITGAE: 3,714,628–3,801,225, reverse strandITGAEHASPIN: 3,723,903–3,726,699, forward strandHASPINNCBP3: 3,802,158–3,846,263, reverse strandNCBP3CAMKK1: 3,860,315–3,894,891, reverse strandCAMKK1P2RX1: 3,896,592–3,916,580, reverse strandP2RX1ATP2A3: 3,923,866–3,964,499, reverse strandATP2A3Diagram of ASPA: 6 exons on the forward strand of chromosome 17Exon 1: 36 known disease-causing sitesExon 2: 29 known disease-causing sitesExon 3: 16 known disease-causing sitesExon 4: 17 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 6: 29 known disease-causing sitesExon 1: 3,475,997–3,476,395, 399 basesExon 2: 3,481,603–3,481,798, 196 basesExon 3: 3,483,499–3,483,592, 94 basesExon 4: 3,489,235–3,489,342, 108 basesExon 5: 3,494,350–3,494,459, 110 basesExon 6: 3,498,891–3,503,405, 4,515 bases1234565′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 5.4 kb of the gene's 27.4 kb; 942 of those bases code for the protein.

How a genome test reads ASPA

153

positions in ASPA 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 27.4 kb of ASPA, introns included, not only the 5.4 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.). ASPA gene: aspartoacylase. Retrieved 16 October 2026, from https://dantelabs.com/genes/aspa

Vancouver

Dante Labs. ASPA gene: aspartoacylase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/aspa

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