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Literature summary for 2.7.1.40 extracted from

  • Yavarian, M.; Karimi, M.; Shahriary, M.; Afrasiabi, A.
    Prevalence of pyruvate kinase deficiency among the south Iranian population: Quantitative assay and molecular analysis (2008), Blood Cells Mol. Dis., 40, 308-311.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information G1168A and G1529A mutations at exon 11, as well as mutations C1492T, C1456T, G1291A, C1594T, G787A, G994A, and G1010C are associated with pyruvate kinase deficiency in south Iranian population Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
erythrocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ADP + phosphoenolpyruvate
-
Homo sapiens ATP + pyruvate
-
?

Cofactor

Cofactor Comment Organism Structure
ADP
-
Homo sapiens