Literature summary for 2.7.1.6 extracted from

Park, H.D.; Bang, Y.L.; Park, K.U.; Kim, J.Q.; Jeong, B.H.; Kim, Y.S.; Song, Y.H.; Song, J.
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency (2007), Mol. Genet. Metab., 91, 234-238.

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Application

Application	Comment	Organism
medicine	identification of five mutations of GALK1 gene in five unrelated Korean patients with GALK deficiency and investigaion of their biochemical characteristics using mammalian cell expression studies. Four missense mutations (p.G137R, p.R256W, p.R277Q, and p.V281M) and one small insertion (c.850_851insG) are identified. Among four patients with severely reduced GALK activity, two are found to be homozygotes for p.R256W and the other two are compound heterozygotes for different molecular defects (p.G137R/p.R277Q and p.V281M/c.850_851insG). One patient with moderately decreased GALK activity is heterozygous for p.R256W. Expression analysis in Cos7 cells confirms that each of the mutations results in reduction of GALK activity and causes GALK deficiency	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in COS7 cells	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P51570	-	-

Synonyms

Synonyms	Comment	Organism
GALK1	-	Homo sapiens

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Release 2023.1 (January 2023)