Literature summary for 2.7.1.6 extracted from

Asada, M.; Okano, Y.; Imamura, T.; Suyama, I.; Hase, Y.; Isshiki, G.
Molecular characterization of galactokinase deficiency in Japanese patients (1999), J. Hum. Genet., 44, 377-382.

Search for more literature for 2.7.1.6

Cloned(Commentary)

Cloned (Comment)	Organism
mutant and wild-type cDNA introduced into COS cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G349S	drastic reduction of activity when expressed in COS cells, missense mutation causes GALK deficiency	Homo sapiens
additional information	the two deletions, of 410delG and 509-510delGT , occur at the nucleotide repeats GGGGGG and GTGTGT, respectively and result in in-frame nonsense codons at amino acids 163 and 201. These mutations arise by slipped strand mispairing	Homo sapiens
R256W	drastic reduction of activity when expressed in COS cells, missense mutation causes GALK deficiency	Homo sapiens
T344M	drastic reduction of activity when expressed in COS cells, missense mutation causes GALK deficiency	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + galactose	Homo sapiens	galactokinase deficiency is an autosomal recessive disorder, which causes cataract formation in children not maintained on a lactose-free diet	ADP + alpha-D-galactose 1-phosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Japanese patients with GALK deficiency, Caucasian patients with GALK deficiency and Japanese wild-type controls	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + D-galactose	-	Homo sapiens	ADP + alpha-D-galactose 1-phosphate	-	?
ATP + galactose	galactokinase deficiency is an autosomal recessive disorder, which causes cataract formation in children not maintained on a lactose-free diet	Homo sapiens	ADP + alpha-D-galactose 1-phosphate	-	?

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Release 2023.1 (January 2023)