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EC Number
General Information
Commentary
Reference
malfunction
biotin deficiency, e.g. occuring in patients with BTD deficiency, in severely malnourished children in developing countries, and in individuals consuming large amounts of raw egg white which contains the protein avidin, has adverse effects on cellular and humoral immune functions, and it can lead to candida dermatitis and presented with absent delayed-hypersensitivity skin-tests responses, IgA deficiency, and subnormal percentages of T-lymphocytes in peripheral blood, overview
malfunction
defective activity of holocarboxylase synthetase in the biotin cycle causes multiple carboxylase deficiency, MCD, an autosomal recessive metabolic disorder usually in the neonatal or early-onset form
malfunction
deficiency in human HCS results in decreased activity of the acyl-CoA carboxylase and affects various metabolic processes
malfunction
holocarboxylase synthetase deficiency causes multiple carboxylase deficiency, phenotypes, overview
malfunction
holocarboxylase synthetase, HCS, deficiency is an inborn error of biotin metabolism, leading to a multiple carboxylases deficiency. A Japanese male neonate with HCS deficiency received maternal administration of biotin from 33 weeks’ gestation, acylcarnitine profiles compared to control, phenotype, overview
metabolism
holocarboxylase synthetase catalyzes the binding of the vitamin biotin to histones H3 and H4, thereby creating rare histone biotinylation marks in the epigenome. The enzyme interacts physically with euchromatic histone-lysine N-methyltransferase
metabolism
holocarboxylase synthetase governs the cellular fate of the essential micronutrient biotin, i.e. vitamin H or B7
metabolism
the enzyme is involved in the biotin metabolism, detailed overview
metabolism
the enzyme is part of the biotin metabolism in which it catalyses the attachment of biotin to apoenzyme carboxylases
physiological function
biotinylation of lysine residues in histones by holocarboxylase synthetase is an epigenetic diet-dependent mechanism to regulate chromatin structure and gene expression
Results 1 - 10 of 17 > >>