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Literature summary for 2.4.2.4 extracted from

  • Bakker, J.A.; Schlesser, P.; Smeets, H.J.; Francois, B.; Bierau, J.
    Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome (2010), J. Inherit. Metab. Dis., 33, S139-143.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.4.2.4

Localization

Localization Comment Organism GeneOntology No. Textmining
cytosol
-
 Homo sapiens 5829
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
thymidine + phosphate Homo sapiens
-
 thymine + 2-deoxy-alpha-D-ribose 1-phosphate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte peripheral blood Homo sapiens
-
stomach
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
0.01
-
 mitochondrial neurogastrointestinal encephalomyopathy syndrome patient, leukocytes Homo sapiens
0.2 0.32 leukocytes of heterozygous individuals in enzyme mutation and mitochondrial neurogastrointestinal encephalomyopathy syndrome Homo sapiens
0.36 0.8 wild-type activity in leukocytes Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
thymidine + phosphate
-
 Homo sapiens thymine + 2-deoxy-alpha-D-ribose 1-phosphate
-
 ?

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.4
-
 assay at Homo sapiens

General Information

General Information Comment Organism
malfunction deficiency of the cytosolic enzyme thymidine phosphorylase causes a multisystem disorder called mitochondrial neurogastrointestinal encephalomyopathy syndrome with symptoms gastrointestinal dysfunction, muscle involvement and neurological deterioration, overview Homo sapiens