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Results for the Protein: P48506
1346190

GSH1_HUMAN RecName: Full=Glutamate--cysteine ligase catalytic subunit; AltName: Full=GCS heavy chain; AltName: Full=Gamma-ECS; AltName: Full=Gamma-glutamylcysteine synthetase

Known Diseases associated with this Protein:
  GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE
  HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY (HAGGSD)
  TO
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GCS - pfam03074


Swiss-Prot Protein: P48506
Identical to: NP_001489
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GCSpfam030748.5e-305236610

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021110Diseasep.ARG127CYSHemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)
Swiss-ProtVAR_013514Diseasep.HIS370LEUHemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)
Swiss-ProtVAR_014884Polymorphismp.LEU55SERN/A
Swiss-ProtVAR_015403Diseasep.PRO158LEUHemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)
dbSNPrs17883718 Polymorphismp.PRO462SERN/A
OMIM606857.0001 Diseasep.HIS370LEUGAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE||TO



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