ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case

An analysis of STP/AGT-cDNA cloned from a primary hyperoxaluria type 1 (PH 1) case reveals point mutation of T to C in the coding area of the serine:pyruvate/alanine:glyoxylate aminotransferase (SPT/AGT) gene, which encodes a Ser to Pro substitution at residue 205. A lowered half-life of this protein results from an exclusive amino acid substitution in STP/AGT discovered in the PH 1 case. Mutant SPT/AGT in cells is an unusual protein which should be eliminated through degradation.