Gene
GCLC
glutamate-cysteine ligase catalytic subunit
- HGNC 4311↗(opens in a new tab)
- Ensembl gene ENSG00000001084↗(opens in a new tab)
- NCBI Gene 2729↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p12.1
- Coordinates
- Chromosome 6: 53,497,341–53,545,101 (GRCh38)
- Exons
- 16 exons across 47.8 kb
- Protein
- 637 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- GCS
- Previous symbols
- GLCLC, GLCL
- MANE Select transcript
- ENST00000650454.1NM_001498.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Pyruvate Kinase Deficiency and Other Red Cell Enzyme Disorders
- Gamma-Glutamylcysteine Synthetase DeficiencyAutosomal recessive
A rare recessive condition caused by changes in GCLC that lowers glutathione in red cells, causing haemolytic anaemia and sometimes neurological problems.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing about it helps avoid 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 GCLC is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
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 3.8 kb of the gene's 47.8 kb; 1,914 of those bases code for the protein.
Traits linked to GCLC
The Human Phenotype Ontology lists these as features of the rare conditions GCLC can cause. Each trait's page lists the other genes linked to it.
Abnormality of the digestive system
- Inability to properly digest food due to lack of pancreatic digestive enzymes
- Malabsorption
- Abnormality of the liver
- Acid reflux
- Fat in feces
- Jaundice
- Meconium ileus
- Rectum protrudes through anus
Show 1 more trait
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). GCLC gene: glutamate-cysteine ligase catalytic subunit. Retrieved 17 October 2026, from https://dantelabs.com/genes/gclc
Dante Labs. GCLC gene: glutamate-cysteine ligase catalytic subunit [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gclc
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