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Gene

ADSL

adenylosuccinate lyase

Summary

Cytogenetic location
22q13.1
Coordinates
Chromosome 22: 40,346,500–40,369,367 (GRCh38)
Exons
13 exons across 22.9 kb
Protein
484 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000623063.3NM_000026.4
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 report relevant to this gene

  • Purine & Pyrimidine Metabolism Disorders

    • Adenylosuccinate Lyase DeficiencyAutosomal recessive

      Caused by variants in ADSL, which can cause developmental delay, seizures and autistic features.

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

      Knowing can end a diagnostic search and guide seizure management.

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 ADSL 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 ADSL sits. ADSL and 12 genes near it on chromosome 22, from 39,857,934 to 40,857,933.Chromosome 2222q13.1p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3340 Mb40.2 Mb40.4 Mb40.6 Mb40.8 MbENTHD1: 39,743,044–39,893,864, reverse strandENTHD1GRAP2: 39,901,084–39,973,721, forward strandGRAP2TMA7B: 39,960,397–39,964,905, forward strandTMA7BSACK1F: 39,994,917–40,043,534, forward strandSACK1FTNRC6B: 40,044,756–40,335,808, forward strandTNRC6BADSL: 40,346,500–40,369,367, forward strandADSL: 40,346,529–40,410,054, forward strandSGSM3: 40,370,564–40,410,837, forward strandSGSM3MRTFA: 40,410,281–40,636,726, reverse strandMRTFAMCHR1: 40,679,273–40,682,812, forward strandMCHR1SLC25A17: 40,769,630–40,819,402, reverse strandSLC25A17ST13: 40,824,445–40,856,919, reverse strandST13XPNPEP3: 40,857,054–40,932,815, forward strandXPNPEP3Diagram of ADSL: 13 exons on the forward strand of chromosome 22Exon 1: 7 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 12: 11 known disease-causing sitesExon 1: 40,346,500–40,346,711, 212 basesExon 2: 40,349,832–40,350,035, 204 basesExon 3: 40,353,073–40,353,117, 45 basesExon 4: 40,354,248–40,354,327, 80 basesExon 5: 40,358,864–40,359,035, 172 basesExon 6: 40,359,260–40,359,306, 47 basesExon 7: 40,360,402–40,360,492, 91 basesExon 8: 40,361,273–40,361,342, 70 basesExon 9: 40,361,488–40,361,635, 148 basesExon 10: 40,362,981–40,363,071, 91 basesExon 11: 40,364,276–40,364,365, 90 basesExon 12: 40,364,880–40,365,056, 177 basesExon 13: 40,366,436–40,369,367, 2,932 bases124681012135′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 4.4 kb of the gene's 22.9 kb; 1,455 of those bases code for the protein.

How a genome test reads ADSL

68

positions in ADSL 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 22.9 kb of ADSL, introns included, not only the 4.4 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.). ADSL gene: adenylosuccinate lyase. Retrieved 17 October 2026, from https://dantelabs.com/genes/adsl

Vancouver

Dante Labs. ADSL gene: adenylosuccinate lyase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/adsl

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