Application | Comment | Organism |
---|---|---|
medicine | two missense mutations in patients of Spanish origin with a severe life-long chronic haemolytic anaemia associated with progressive neurological impairment. One patient with an amino acid change of Ile to Asn at 46th position from the NH2-terminal serine residue, the second patient with a Ser319Asn amino acid substitution. In both cases, the mutations do not modify any of the PGK binding sites for ATP or 3-phospho-D-glycerate, so their consequence is related to a loss of enzyme stability rather than a decrease of enzyme catalytic function | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P00558 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + 3-phospho-D-glycerate | - |
Homo sapiens | ADP + 1,3-diphosphoglycerate | - |
? |
Synonyms | Comment | Organism |
---|---|---|
PGK1 | - |
Homo sapiens |