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Gene

GSS

glutathione synthetase

Summary

Cytogenetic location
20q11.22
Coordinates
Chromosome 20: 34,928,432–34,955,806 (GRCh38)
Exons
13 exons across 27.4 kb
Protein
474 amino acids
MANE Select transcript
ENST00000651619.1NM_000178.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Glutathione Synthetase Deficiency

    • glutathione synthetase deficiency with 5-oxoprolinuriaAutosomal recessive
      • 1 GenCC submitter rates it definitive or strong
    • Inherited Glutathione Synthetase DeficiencyAutosomal recessive

      An inherited shortage of glutathione caused by changes in GSS, ranging from mild red blood cell breakdown to severe forms with acid build-up and 5-oxoprolinuria.

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

      Knowing about it supports avoiding medicines and foods that trigger red cell breakdown, and antioxidant treatment in severe forms.

How GSS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 20, with a bracket where GSS sits. GSS and 20 genes near it on chromosome 20, from 34,442,119 to 35,442,118.Chromosome 2020q11.22p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3334.6 Mb34.8 Mb35 Mb35.2 Mb35.4 MbITCH: 34,363,235–34,511,773, forward strandITCH: 34,363,271–34,540,923, forward strandDYNLRB1: 34,515,600–34,540,958, forward strandDYNLRB1MAP1LC3A: 34,546,838–34,560,357, forward strandMAP1LC3APIGU: 34,560,542–34,698,790, reverse strandPIGUNCOA6: 34,689,097–34,825,739, reverse strandNCOA6TP53INP2: 34,701,662–34,713,442, forward strandTP53INP2GGT7: 34,844,714–34,872,888, reverse strandGGT7ACSS2: 34,872,146–34,927,962, forward strandACSS2GSS: 34,928,432–34,955,806, reverse strandGSSMYH7B: 34,955,810–35,002,440, forward strandMYH7BTRPC4AP: 34,995,209–35,092,868, reverse strandTRPC4APEDEM2: 35,113,122–35,147,404, reverse strandEDEM2PROCR: 35,153,330–35,216,253, forward strandPROCRMMP24OS: 35,201,745–35,278,131, reverse strandMMP24OSMMP24: 35,226,559–35,277,030, forward strandMMP24: 35,267,885–35,280,043, reverse strandEIF6: 35,278,891–35,285,009, reverse strandEIF6SACK1C: 35,285,731–35,292,425, reverse strandUQCC1: 35,301,219–35,412,070, reverse strandUQCC1GDF5: 35,433,347–35,454,754, reverse strandGDF5Diagram of GSS: 13 exons on the reverse strand of chromosome 20Exon 13: 1 known disease-causing siteExon 12: 6 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 2: 7 known disease-causing sitesExon 13: 34,928,432–34,928,951, 520 basesExon 12: 34,929,401–34,929,590, 190 basesExon 11: 34,931,336–34,931,417, 82 basesExon 10: 34,931,939–34,932,133, 195 basesExon 9: 34,935,576–34,935,642, 67 basesExon 8: 34,936,763–34,936,840, 78 basesExon 7: 34,936,943–34,937,023, 81 basesExon 6: 34,941,713–34,941,829, 117 basesExon 5: 34,942,488–34,942,627, 140 basesExon 4: 34,942,931–34,943,006, 76 basesExon 3: 34,945,953–34,946,098, 146 basesExon 2: 34,951,724–34,951,860, 137 basesExon 1: 34,955,727–34,955,806, 80 bases131210864215′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 1.9 kb of the gene's 27.4 kb; 1,425 of those bases code for the protein.

Sequencing GSS

50

positions in GSS 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 GSS, introns included, not only the 1.9 kb of exons.

Traits linked to GSS

The Human Phenotype Ontology lists these as features of the rare conditions GSS 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.). GSS gene: glutathione synthetase. Retrieved 17 October 2026, from https://dantelabs.com/genes/gss

Vancouver

Dante Labs. GSS gene: glutathione synthetase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gss

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