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Literature summary for 2.4.2.8 extracted from

  • Micheli, V.; Gathof, B.S.; Rocchigiani, M.; Jacomelli, G.; Sestini, S.; Peruzzi, L.; Notarantonio, L.; Cerboni, B.; Hayek, G.; Pompucci, G.
    Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase (2002), Biochim. Biophys. Acta, 1587, 45-52.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
L147F natural occuring point mutation leading to enzyme deficiency, which is not correlated with a physiological syndrome Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
erythrocyte of a mentally retarded child and its family members, partial enzyme deficiency Homo sapiens
-

Storage Stability

Storage Stability Organism
-80°C, mutant and wild-type enzyme, stable up to 3 years Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
guanine + 5-phospho-alpha-D-ribose 1-diphosphate
-
Homo sapiens GMP + diphosphate
-
?
hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate
-
Homo sapiens IMP + diphosphate
-
?
additional information a mentally retarded child and its asymptomatic uncle have a partial enzyme deficiency, homozygous, while mother and grandmother are heterozygous and not enzyme-deficient Homo sapiens ?
-
?

Temperature Stability [°C]

Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
60
-
mutant and wild-type enzyme, 8 min, stable Homo sapiens