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

Gene: MYH7B

Alternate names for this Gene:

Gene Summary:

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Description of this Gene:

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rs1555889738 in GSS;MYH7B gene and Gluthathione synthetase deficiency PMID 15717202 2005 Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.

PMID 14635114 2003 Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.

rs13041792 in GSS;MYH7B 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.

rs13041792 in GSS;MYH7B gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.