Protein Variants | Comment | Organism |
---|---|---|
A198V | GALK variant associated with an A198V mutation in three infants with mild GALK deficiency. Km-values from healthy and mutant individuals are similar. The variant A198V probably originates in Japanese and Korean ancestors and is one of the genetic factors that cause cataract in elderly individuals | Homo sapiens |
KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.106 | - |
D-galactose | - |
Homo sapiens | |
0.117 | - |
D-galactose | mutant enzyme A198V | Homo sapiens | |
0.309 | - |
ATP | - |
Homo sapiens | |
0.33 | - |
ATP | mutant enzyme A198V | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + galactose | Homo sapiens | galaktokinase deficiency is an autosomal recessive disorder characterized by hypergalactosemia and cataract formation | ADP + alpha-D-galactose 1-phosphate | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + D-galactose | - |
Homo sapiens | ADP + alpha-D-galactose 1-phosphate | - |
? | |
ATP + galactose | galaktokinase deficiency is an autosomal recessive disorder characterized by hypergalactosemia and cataract formation | Homo sapiens | ADP + alpha-D-galactose 1-phosphate | - |
? |