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

BRENDA support

Literature summary extracted from

  • Podskarbi, T.; Kohlmetz, T.; Gathof, B.S.; Kleinlein, B.; Bieger, W.P.; Gresser, U.; Shin, Y.S.
    Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase (1996), J. Inherit. Metab. Dis., 19, 638-644.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.7.7.12 E340X/L218L/N314D native mutant, no or nearly no enzyme activity, L218L is a silent mutation, galactosemia phenotype Homo sapiens
2.7.7.12 L218L/N314D native Duarte-1 D1 variant, L218L is a silent mutation, N314D leads to 110-130% activity compared to the wild-type Homo sapiens
2.7.7.12 N314D/G1105C/G1391A native Duarte-2 D2 variant, 40-50% activity compared to the wild-type Homo sapiens
2.7.7.12 Q188R native mutant, no enzyme activity in vivo, galactosemia phenotype Homo sapiens
2.7.7.12 W316X/N314D/G1105C/G1391A native mutant, nearly no enzyme activity, galactosemia phenotype 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
-
 2 different allelic variants : Duarte-1, D1, and Duarte-2, D2
-

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

Synonyms

EC Number Synonyms Comment Organism
2.7.7.12 GALT
-
 Homo sapiens