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EC Number Application Commentary Reference
Show all pathways known for 6.3.4.14Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.14medicine identification of mutations of the pyruvate carboxylase gene that cause pyruvate carboxylase deficiency. Deficiency form A results from association of two missense mutations located in biotin carboxylase or carboxyltransferase N-terminal part domains. Although most pyruvate carboxylase mutations are suggested to interfere with biotin metabolism, none of the pyruvate carboxylase-deficient patients tested is biotin-responsive 703970
Show all pathways known for 6.3.4.14Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.14medicine the three biotin carboxylase mutants M169K, R338Q and R338S are used for study in order to mimic the disease-causing mutations M204K and R374Q of propionyl-CoA carboxylase and R385S of 3-methylcrotonyl-CoA carboxylase, which are mutations found in propionic acidemia or methylcrotonylglycinuria patients 656207
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