EC Number   |
General Information |
Reference  |
|---|
   6.3.4.10 | metabolism |
holocarboxylase synthetase governs the cellular fate of the essential micronutrient biotin, i.e. vitamin H or B7 |
701936 |
| 6.3.4.10 | physiological function |
HCS is responsible for attaching biotin onto the biotin-dependent enzymes that reside in the cytoplasm and mitochondria |
701936 |
| 6.3.4.10 | 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 |
702499 |
| 6.3.4.10 | metabolism |
the enzyme is involved in the biotin metabolism, detailed overview |
702499 |
| 6.3.4.10 | 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 |
702952 |
| 6.3.4.10 | 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 |
703282 |
| 6.3.4.10 | malfunction |
deficiency in human HCS results in decreased activity of the acyl-CoA carboxylase and affects various metabolic processes |
703738 |
| 6.3.4.10 | physiological function |
HCS catalyzes transfer of biotin to biotin-dependent carboxylases, and the enzyme is therefore of fundamental importance for many physiological processes, including fatty acid synthesis, gluconeogenesis, and amino acid catabolism. In addition, the enzyme functions in regulating transcription initiation at several genes that code for proteins involved in biotin metabolism |
704561 |
| 6.3.4.10 | malfunction |
holocarboxylase synthetase deficiency causes multiple carboxylase deficiency, phenotypes, overview |
704972 |
| 6.3.4.10 | metabolism |
the enzyme is part of the biotin metabolism in which it catalyses the attachment of biotin to apoenzyme carboxylases |
704972 |
