Application | Comment | Organism |
---|---|---|
medicine | mutations of the glycine decarboxylase gene are found in patients with nonketotic hyperglycinemia, NKH | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
missense mutations expressed in COS7 cells | Homo sapiens |
two identified mutations, A389V and R739V, are introduced into the pEUK-(N) expression vector pEUK-(C1) carrying human glycine decarboxylase complementary DNA for expression in COS7 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A389V | missense mutation, 6-8% of normal GLDC activity when expressed in COS7 cells | Homo sapiens |
R739H | missense mutation, 6-8% of normal GLDC activity when expressed in COS7 cells | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
glycine + H-protein-lipoyllysine | Homo sapiens | - |
H-protein-S-aminomethyldihydrolipoyllysine + CO2 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Homo sapiens | - |
adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
mutations have a 6 to 8% of normal glycine decarboxylase activities when expressed in COS7 cells | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
glycine + H-protein-lipoyllysine | - |
Homo sapiens | H-protein-S-aminomethyldihydrolipoyllysine + CO2 | - |
? |
Synonyms | Comment | Organism |
---|---|---|
GLDC | - |
Homo sapiens |
glycine decarboxylase | - |
Homo sapiens |
glycine dehydrogenase | - |
Homo sapiens |