title: Immunological heterogeneity of hepatic alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1.
abstract: Immunoblotting of human liver sonicates, after SDS-polyacrylamide gel electrophoresis, demonstrated the presence of a 40 kDa protein, corresponding to the subunit of alanine:glyoxylate aminotransferase, in six controls and three patients with primary hyperoxaluria type 1 (peroxisomal alanine:glyoxylate aminotransferase deficiency). This immunoreactive 40 kDa protein was absent in a further nine patients. Subcellular fractionation of patients' livers showed that the 40 kDa protein, when present, was located mainly in the peroxisomes. In a heterozygote liver, the 40 kDa protein was also mainly peroxisomal and paralleled the distribution of alanine:glyoxylate aminotransferase activity.
mesh_terms: D000410:Alanine Transaminase / Q000235:genetics* / Q000276:immunology; D000939:Epitopes / Q000032:analysis; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D006959:Hyperoxaluria / Q000201:enzymology*; D006960:Hyperoxaluria, Primary / Q000201:enzymology* / Q000235:genetics; D008099:Liver / Q000201:enzymology*; D046911:Macromolecular Substances; D013347:Subcellular Fractions / Q000201:enzymology; D000637:Transaminases
chemical_list: D000939:Epitopes; D046911:Macromolecular Substances; D000637:Transaminases; D000410:Alanine Transaminase; C019635:Alanine-glyoxylate transaminase