Glutathione Synthetase

Alternative Names

  • GSS
  • GSHS
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OMIM Number

601002

NCBI Gene ID

2937

Uniprot ID

P48637

Length

27,596 bases

No. of Exons

15

No. of isoforms

2

Protein Name

Glutathione Synthetase

Molecular Mass

52385 Da

Amino Acid Count

474

Genomic Location

chr20:34,928,431-34,956,026

Gene Map Locus
20q11.22

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000178.4:c.491G>ASaudi Arabia; Sudanchr20:34942488PathogenicPathogenicGlutathione Synthetase DeficiencyNG_008848.2:g.18540G>A; NM_000178.4:c.491G>A; NP_001309423.1:p.Arg164Gln1219093078525
NM_000178.4:c.847C>TSaudi Arabiachr20:34932121PathogenicPathogenicGlutathione Synthetase DeficiencyNG_008848.2:g.28907C>T; NM_000178.4:c.847C>T; NP_001309423.1:p.Arg283Cys1219093098528
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