ATP-Dependent Degradation of a Mutant Serine:Pyruvate/Alanine:Glyoxylate Aminotransferase in a Primary Hyperoxaluda Type 1 Case

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Author	Nishiyama, Kozo Funai, Tsuneyoshi Ichiyama, Arata Yokota, Sadaki
Abstract	Abstract. Primary hyperoxaluria type 1 (PH 1), an inborn error of glyoxylate metabolism characterized by excessive synthesis of oxalate and glycolate, is caused by a defect in serine:pyruvate/alanine:glyoxylate aminotransferase (SPT/AGT). This enzyme is peroxisomal in human liver. Recently, we cloned SPT/ AGT-cDNA from a PH 1 case, and demonstrated a point mutation of T to C in the coding region of the SPT/AGT gene encoding a Ser to Pro substitution at
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Subject Keyword	Pyruvate Alanine Mutant Serine Atp-dependent Degradation Primary Hyperoxaluda Type Inborn Error Spt Agt Gene Coding Region Point Mutation Human Liver Spt Agt Glyoxylate Aminotransferase Spt Agt-cdna Excessive Synthesis Glyoxylate Metabolism
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