Literature summary for 2.7.7.10 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.

Search for more literature for 2.7.7.10

Protein Variants

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

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

Synonyms

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

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Release 2023.1 (January 2023)