EC Number | Application | Comment | Organism |
---|---|---|---|
6.3.4.10 | medicine | identifaction of patients with holocarboxylase synthetase deficiency by newborn screening | Homo sapiens |
EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
6.3.4.10 | N511I | mutation idientified in 2-year old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, lactate and methylcitrate levels | Homo sapiens |
6.3.4.10 | N570K | plus mutation c.1519+5GNA, idientified in 5-month old patient with elevated 3-hydroxyisovalerate, and 3-methylcrotonylglycine levels | Homo sapiens |
6.3.4.10 | R565X/G326E | mutation idientified in 18-day old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine and methylcitrate levels | Homo sapiens |
6.3.4.10 | R655X | mutation identified in 3-year old patient with elevated 3-hydroxybutanoate, 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, acetoacetate and lactate levels | Homo sapiens |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
6.3.4.10 | Homo sapiens | - |
- |
- |