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Literature summary extracted from

  • Shin, Y.S.; Zschocke, J.; Das, A.M.; Podskarbi, T.
    Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase (1999), J. Inherit. Metab. Dis., 22, 327-329.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.7.7.12 additional information Munich2 mutant with base exchange at 2252 G to T, 20-25% activity compared to wild-type, no clinical symptoms Homo sapiens
2.7.7.12 additional information native Schönstadt mutant with base exchange at 897 G to C, 15-20% activity compared to wild-type, some clinical symptoms Homo sapiens
2.7.7.12 N314D/G1105C/G1391A native Duarte-2 D2 variant with additional exchange of bases at 1323 G to A, 20-25% activity compared to wild-type, no clinical symptoms Homo sapiens
2.7.7.12 R258C native mutant, 15-20% activity compared to wild-type, some clinical symptoms Homo sapiens
2.7.7.12 R333G native mutant, 20% activity compared to wild-type, no clinical symptoms Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.7.7.12 UDP-glucose + alpha-D-galactose 1-phosphate Homo sapiens essential enzyme in galactose metabolism, deficiency causes genetic disorder galactosemia, e.g. mutant Duarte variant alpha-D-glucose 1-phosphate + UDP-galactose
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 ?

Organism

EC Number Organism UniProt Comment Textmining
2.7.7.12 Homo sapiens
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 several galactosemic mutants
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2.7.7.12 Homo sapiens
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 missense mutant N314D, Duarte allele
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Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.7.12 UDP-glucose + alpha-D-galactose 1-phosphate essential enzyme in galactose metabolism, deficiency causes genetic disorder galactosemia, e.g. mutant Duarte variant Homo sapiens alpha-D-glucose 1-phosphate + UDP-galactose
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 ?