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Literature summary extracted from

  • Mirzajani, F.; Mirfakhraie, R.; Nabati, F.; Tabatabaei, N.N.; Talachian, E.; Houshmand, M.
    The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients (2006), Clin. Biochem., 39, 697-699.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.7.7.10 A320T the mutation causes classical galactosemia Homo sapiens
2.7.7.10 K285N the mutation causes classical galactosemia Homo sapiens
2.7.7.10 Q188R the mutation causes classical galactosemia Homo sapiens
2.7.7.10 S135L the mutation causes classical galactosemia Homo sapiens
2.7.7.10 Y209S the mutation causes classical galactosemia Homo sapiens

Organism

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

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.7.10 UTP + alpha-D-galactose 1-phosphate
-
 Homo sapiens diphosphate + UDP-galactose
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.7.7.10 galactose-1-phosphate uridyl transferase
-
 Homo sapiens
2.7.7.10 GALT
-
 Homo sapiens