GSS

Chr 20AR

glutathione synthetase

Also known as: CNSHA6, GSHS, HEL-S-64p, HEL-S-88n

NCBI Gene: 2937ENSG00000100983UniProt: P48637

Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficientMIM #231900
AR
Glutathione synthetase deficiencyMIM #266130
AR
1
Active trials
0
Pathogenic / LP
0
ClinVar variants
221
Pubs (1 yr)
0.8
Missense Z
0.79
LOEUF
Clinical Summary— GSS
🧬
Gene-Disease Validity (ClinGen)
inherited glutathione synthetase deficiency · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
📖
GeneReview available — GSS
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.79LOEUF
pLI 0.000
Z-score 2.43
OE 0.50 (0.33–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.77Z-score
OE missense 0.87 (0.78–0.97)
227 obs / 262.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.50 (0.33–0.79)
0≤0.351.4
Missense OE0.87 (0.78–0.97)
0≤0.61.4
Synonymous OE0.86
0≤1.21.6
LoF obs/exp: 14 / 27.9Missense obs/exp: 227 / 262.3Syn Z: 1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

GSS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Transcriptome and Proteome Analysis Revealed the Influence of High-Molecular-Weight Glutenin Subunits (HMW-GSs) Deficiency on Expression of Storage Substances and the Potential Regulatory Mechanism of HMW-GSs
Zhao Y et al.·Foods
2023Functional
The effects of technical factors on the fractal dimension in different dental radiographic images
Amuk M et al.·Eur Oral Res
2023
Drone aerial imagery for the simulation of a neonate burial based on the geoforensic search strategy (GSS).
Rocke B et al.·J Forensic Sci
2021
Revealing Energy Density in Porous Carbon Supercapacitors Using Hydroquinone Sulfonic Acid as Cathodic and Alizarin Red S as Anodic Redox Electrolytes
Abbasi S et al.·Small
2024
Analysis of biodiversity distribution patterns around the plateau lake based on the MaxEnt and InVest models
Luo P et al.·Sci Rep
2025Functional
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Circ-Eif3c Carried by M2 Macrophage-Derived Exosomes Mitigates Asthma Progression via miR-15a-5p/GSS/SOCS6 Axis Inhibition.
Yuan J et al.·Mediators Inflamm
2026Open Access
Age-related GSS promoter methylation in BMSCs drives osteoporosis and the reversal by targeted GSH delivery.
Li P et al.·Bioact Mater
2026Open Access
Metformin targets RRM2/GSS/GPX4 axis to induce fibroblast ferroptosis: A foreground strategy against hypertrophic scarring.
Chen Z et al.·Free Radic Biol Med
2026
YOLOv8n-GSS-Based Surface Defect Detection Method of Bearing Ring.
Liang S et al.·Sensors (Basel)
2025Open Access
Beyond strain maintenance: Pre-Filter, a viable practice to incorporate desirable traits to genetic sexing strains (GSS) of Ceratitis capitata used in sterile insect technique (SIT) control programs.
Ramírez-Santos EM et al.·Insect Sci
2025
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients