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Literature summary for 2.7.1.165 extracted from

  • Sass, J.O.; Fischer, K.; Wang, R.; Christensen, E.; Scholl-Buergi, S.; Chang, R.; Kapelari, K.; Walter, M.
    D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK) (2010), Hum. Mutat., 31, 1280-1285.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
expressed in HEK-293 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
F483S the mutant shows loss of enzyme activity. The mutation leads to D-glyceric acidemia Homo sapiens
F493C the mutant shows loss of enzyme activity. The mutation leads to D-glyceric acidemia Homo sapiens
L510C the mutant shows loss of enzyme activity. The mutation leads to D-glyceric acidemia Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood plasma
-
Homo sapiens
-
urine
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + D-glycerate
-
Homo sapiens ADP + 2-phospho-D-glycerate
-
?

Synonyms

Synonyms Comment Organism
D-glycerate kinase
-
Homo sapiens
Glyctk
-
Homo sapiens

General Information

General Information Comment Organism
malfunction D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase Homo sapiens