Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary 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

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
2.4.2.4 Homo sapiens
-
-
-

Source Tissue

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

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
2.4.2.4 0.01
-
 mitochondrial neurogastrointestinal encephalomyopathy syndrome patient, leukocytes Homo sapiens
2.4.2.4 0.2 0.32 leukocytes of heterozygous individuals in enzyme mutation and mitochondrial neurogastrointestinal encephalomyopathy syndrome Homo sapiens
2.4.2.4 0.36 0.8 wild-type activity in leukocytes Homo sapiens

Substrates and Products (Substrate)

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

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
2.4.2.4 37
-
 assay at Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
2.4.2.4 7.4
-
 assay at Homo sapiens

General Information

EC Number General Information Comment Organism
2.4.2.4 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