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Results for the Protein: P54886
6226882

P5CS_HUMAN RecName: Full=Delta-1-pyrroline-5-carboxylate synthase; Short=P5CS; AltName: Full=Aldehyde dehydrogenase family 18 member A1; Includes: RecName: Full=Glutamate 5-kinase; Short=GK; AltName: Full=Gamma-glutamyl kinase; Includes: RecName: Full=Gamma-glutamyl phosphate reductase; Short=GPR; AltName: Full=Glutamate-5-semialdehyde dehydrogenase; AltName: Full=Glutamyl-gamma-semialdehyde dehydrogenase

Known Diseases associated with this Protein:
  CUTIS LAXA, AUTOSOMAL RECESSIVE, 3A (ARCL3A)
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
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