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Gene

ASL

argininosuccinate lyase

Summary

Cytogenetic location
7q11.21
Coordinates
Chromosome 7: 66,075,819–66,093,576 (GRCh38)
Exons
17 exons across 17.8 kb
Protein
464 amino acids
Also known as
ASAL
MANE Select transcript
ENST00000304874.14NM_000048.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Urea Cycle Disorder

    • A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.

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

      Nitrogen scavenger therapy (sodium benzoate, glycerol phenylbutyrate/Ravicti); protein-restricted diet with essential amino acid supplementation; emergency hyperammonemia protocols; liver transplantation (curative); mRNA therapy trials for OTC; carglumic acid for NAGS deficiency

How ASL is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where ASL sits. ASL and 5 genes near it on chromosome 7, from 65,584,698 to 66,584,697.Chromosome 77q11.21p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.365.6 Mb65.8 Mb66 Mb66.2 Mb66.4 MbVKORC1L1: 65,873,069–65,959,563, forward strandVKORC1L1GUSB: 65,960,677–65,982,704, reverse strandGUSBASL: 66,075,819–66,093,576, forward strandASL: 66,087,761–66,152,277, forward strandCRCP: 66,114,604–66,154,568, forward strandCRCPTPST1: 66,205,289–66,420,549, forward strandTPST1Diagram of ASL: 17 exons on the forward strand of chromosome 7Exon 2: 2 known disease-causing sitesExon 3: 21 known disease-causing sitesExon 4: 13 known disease-causing sitesExon 5: 11 known disease-causing sitesExon 6: 15 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 8: 14 known disease-causing sitesExon 9: 12 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 11: 13 known disease-causing sitesExon 12: 9 known disease-causing sitesExon 13: 9 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 15: 8 known disease-causing sitesExon 16: 7 known disease-causing sitesExon 17: 13 known disease-causing sitesExon 1: 66,075,819–66,075,856, 38 basesExon 2: 66,076,039–66,076,093, 55 basesExon 3: 66,081,803–66,081,997, 195 basesExon 4: 66,082,368–66,082,451, 84 basesExon 5: 66,082,880–66,082,936, 57 basesExon 6: 66,083,077–66,083,174, 98 basesExon 7: 66,086,585–66,086,662, 78 basesExon 8: 66,086,744–66,086,821, 78 basesExon 9: 66,087,334–66,087,386, 53 basesExon 10: 66,087,729–66,087,791, 63 basesExon 11: 66,088,807–66,088,921, 115 basesExon 12: 66,089,091–66,089,175, 85 basesExon 13: 66,089,276–66,089,335, 60 basesExon 14: 66,089,612–66,089,695, 84 basesExon 15: 66,092,006–66,092,086, 81 basesExon 16: 66,092,557–66,092,663, 107 basesExon 17: 66,092,768–66,093,576, 809 bases151015175′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 2.1 kb of the gene's 17.8 kb; 1,395 of those bases code for the protein.

Sequencing ASL

206

positions in ASL 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 17.8 kb of ASL, introns included, not only the 2.1 kb of exons.

Genes linked to the same conditions

Traits linked to ASL

The Human Phenotype Ontology lists these as features of the rare conditions ASL 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 2026-10-17: 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 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). ASL gene: argininosuccinate lyase. Retrieved 17 October 2026, from https://dantelabs.com/genes/asl

Vancouver

Dante Labs. ASL gene: argininosuccinate lyase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/asl

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