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Literature summary extracted from

  • Christacos, N.C.; Fridovich-Keil, J.L.
    Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase (2002), Mol. Genet. Metab., 76, 319-326.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.7.12 cloning in Escherichia coli and coexpression in yeast of mutant heterodimers derived from galactosemic patients, use of different tags Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.7.12 additional information coexpression of wild-type and/or mutant subunits in yeast, study of dimer formation pattern and subunit assortment, mutations: S135L, F171S, F171W, H186G, Q188R, N314D, R333W, overview 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
-
 r

Organism

EC Number Organism UniProt Comment Textmining
2.7.7.12 Homo sapiens
-
 native galactosemic R333W mutant
-
2.7.7.12 Homo sapiens
-
 native galactosemic Q188R mutant
-
2.7.7.12 Homo sapiens
-
 native mutant F171S
-
2.7.7.12 Homo sapiens
-
 missense mutant N314D, Duarte allele
-

Purification (Commentary)

EC Number Purification (Comment) Organism
2.7.7.12 tagged mutant heterodimers from yeast Homo sapiens

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
-
 Homo sapiens alpha-D-glucose 1-phosphate + UDP-galactose
-
 r
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
-
 r

Subunits

EC Number Subunits Comment Organism
2.7.7.12 More random subunit formation pattern Homo sapiens