Identification of mitochondrial targeting signal in glyoxylate reductase/hydroxypyruvate reductase (GRHPR)and Surveillance of primary hyperoxalurias

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Nucleotide sequence of the cDNA for the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) gene, which is candidate enzyme for primary hyperoxaluria type 2 (PH2), indicates that the gene encodes the a 328-amino-acid protein with a calculated molecular weight of 35,563Da. We demonstrated that GRHPR is located both in the cytoplasm and in mitochondria. However, mitochondrial targeting sequence has not still identified and we are vigorously exploring it. We also identified new mutation of the GRHPR gene. PH1 is diagnosed by the decrease or loss of the serine : pyruvate alanine : glyoxylate aminotransferase (SPT/AGT) activity in human liver biopsy, but the essential enzyme in the assay of SPT is no longer in production. We confirmed that the activity of AGT in human liver can be determined by either AGT, SGT or SPT activity.