The amino acid sequence of human hepatic peroxisomal L-alanine:glyoxylate aminotransferase 1 (AGT1) deduced from cDNA shows 78% sequence identity with that of rat mitochondrial AGT1, but lacks the N-terminal 22 amino acids (the putative mitochondrial targeting signal). In humans this signal appears to have been depleted during evolution by a point mutation of the initiation codon ATG to ATA. These data suggest that the targeting defect in primary hyperoxaluria type 1, in which AGT1 is diverted from the peroxisomes to the mitochondria, could be due to a point mutation that reintroduces all or part of the mitochondrial signal sequence.
|Original language||English (US)|
|Number of pages||4|
|State||Published - 1990|
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