Gene: GSS

Alternate names for this Gene: GSHS|HEL-S-64p|HEL-S-88n

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: glutathione synthetase

Type of Gene: protein-coding

rs6060124 in GSS gene and Alcoholic Intoxication, Chronic PMID 23089632 2013 A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.

rs2273684 in GSS gene and Bipolar Disorder PMID 23070075 2013 Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample.

rs2273684 in GSS gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs121909307 in GSS gene and Gluthathione synthetase deficiency PMID 17479648 2007 Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient.

PMID 25851806 2015 Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.

PMID 15717202 2005 Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.

PMID 8896573 1996 Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.

PMID 9215686 1997 Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.

PMID 27581854 2016 Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.

rs2025096 in GSS gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs2025096 in GSS gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs2025096 in GSS gene and QRS complex feature PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.