Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:6.3.4.10 (EC 6.3.4.10)
 2 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There appear to be at least two underlying aetiologies for combined carboxylase deficiency; firstly, a failure of biotinylation of apocarboxylases due to a mutation of holocarboxylase synthetase (EC 6.3.4.10) which results in an enzyme with a high Km with respect to biotin and secondly, a failure of biotinylation due to a lowered availability of biotin due to biotinidase deficiency (EC 3.5.1.12). In both these disorders secondary defects of all four biotin-dependent carboxylases result which in turn causes the excretion of the metabolites characteristic of the isolated carboxylase deficiencies. In addition, both disorders respond biochemically and clinically to the administration of large amounts of biotin.
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PMID:Enzyme studies in biotin-responsive disorders. 286 73

The purification of biotin holocarboxylase synthetase (EC 6.3.4.10) from rat liver cytosol to a much higher degree of purity than previously reported, is described. The specific enzymatic activity of the final preparation is increased about 7,000 fold over the starting material. The purified preparation elutes from a gel-filtration column in a volume consistent with a molecular size of 100 kDa and examination by SDS-PAGE reveals one major band of M(r) 50 kDa. This suggests that the native synthetase may exist as a dimer of similar weight subunits.
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PMID:Biotin holocarboxylase synthetase: purification from rat liver cytosol and some properties. 784 32