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Gene

GSR

glutathione-disulfide reductase

Summary

Cytogenetic location
8p12
Coordinates
Chromosome 8: 30,678,066–30,727,846 (GRCh38)
Exons
13 exons across 49.8 kb
Protein
522 amino acids
Inheritance
Autosomal recessive
Also known as
GRase
MANE Select transcript
ENST00000221130.11NM_000637.5
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

  • Pyruvate Kinase Deficiency and Other Red Cell Enzyme Disorders

    • Glutathione Reductase DeficiencyAutosomal recessive

      A rare recessive condition caused by changes in GSR, in which red cells are vulnerable to oxidative damage, so haemolysis can follow fava beans or certain medicines; cataracts can also develop.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing about it helps avoid fava beans and medicines that can trigger haemolysis.

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 GSR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where GSR sits. GSR and 8 genes near it on chromosome 8, from 30,202,956 to 31,202,955.Chromosome 88p12p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.330.4 Mb30.6 Mb30.8 Mb31 Mb31.2 MbRBPMS: 30,383,636–30,572,261, forward strandRBPMSGTF2E2: 30,578,318–30,660,846, reverse strandGTF2E2SMIM18: 30,638,559–30,647,260, forward strandSMIM18GSR: 30,678,066–30,727,846, reverse strandGSRUBXN8: 30,729,131–30,767,009, forward strandUBXN8PPP2CB: 30,774,096–30,814,314, reverse strandPPP2CBTEX15: 30,831,425–30,913,024, reverse strandTEX15PURG: 30,994,702–31,033,715, reverse strandPURGWRN: 31,033,761–31,176,138, forward strandWRNDiagram of GSR: 13 exons on the reverse strand of chromosome 8Exon 5: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 1: 2 known disease-causing sitesExon 13: 30,678,066–30,679,669, 1,604 basesExon 12: 30,680,904–30,681,037, 134 basesExon 11: 30,681,930–30,682,061, 132 basesExon 10: 30,684,088–30,684,199, 112 basesExon 9: 30,689,161–30,689,319, 159 basesExon 8: 30,692,969–30,693,055, 87 basesExon 7: 30,696,380–30,696,479, 100 basesExon 6: 30,700,081–30,700,135, 55 basesExon 5: 30,703,093–30,703,240, 148 basesExon 4: 30,708,072–30,708,141, 70 basesExon 3: 30,709,814–30,709,902, 89 basesExon 2: 30,712,062–30,712,088, 27 basesExon 1: 30,727,530–30,727,846, 317 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 3 kb of the gene's 49.8 kb; 1,569 of those bases code for the protein.

How a genome test reads GSR

4

positions in GSR 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 49.8 kb of GSR, introns included, not only the 3 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.). GSR gene: glutathione-disulfide reductase. Retrieved 17 October 2026, from https://dantelabs.com/genes/gsr

Vancouver

Dante Labs. GSR gene: glutathione-disulfide reductase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gsr

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