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Literature summary for 2.7.1.11 extracted from

  • Garcia, M.; Pujol, A.; Ruzo, A.; Riu, E.; Ruberte, J.; Arbos, A.; Serafin, A.; Albella, B.; Feliu, J.E.; Bosch, F.
    Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis (2009), PLoS Genet., 5, e1000615.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.1.11

Organism

Organism UniProt Comment Textmining
Mus musculus
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-
-

Source Tissue

Source Tissue Comment Organism Textmining
erythrocyte
-
 Mus musculus
-
muscle
-
 Mus musculus
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + D-fructose 6-phosphate
-
 Mus musculus ADP + D-fructose 1,6-bisphosphate
-
 ?

Synonyms

Synonyms Comment Organism
PFK-1
-
 Mus musculus
PFKM
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 Mus musculus
phosphofructo-1-kinase
-
 Mus musculus

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Mus musculus

General Information

General Information Comment Organism
malfunction phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis, the lack of PFK activity blocks glycolysis and results in considerable glycogen storage and low ATP content, although erythrocytes of PFK knockout mice preserve 50% of PFK activity, they show strong reduction of 2,3-biphosphoglycerate concentrations and hemolysis, PFK knockout mice exhibit high lethality and skeletal muscle glycogenosis Mus musculus