Literature summary for 2.7.1.6 extracted from

P, S.; Ebrahimi, E.A.; Ghazala, S.A.; D, T.K.; R, S.; Priya Doss C, G.; Zayed, H.
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2 (2018), J. Cell. Biochem., 119, 7585-7598 .

Search for more literature for 2.7.1.6

Protein Variants

Protein Variants	Comment	Organism
A198V	a loss of stability and function is predicted by molecular docking and simulation modeling	Homo sapiens
L139P	a loss of stability and function is predicted by molecular docking and simulation modeling	Homo sapiens
P28T	a loss of stability and function is predicted by molecular docking and simulation modeling	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P51570	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + alpha-D-galactose	-	Homo sapiens	ADP + alpha-D-galactose 1-phosphate	-	?

Synonyms

Synonyms	Comment	Organism
galactokinase 1	-	Homo sapiens
GALK1	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	galactosemia type 2 is an autosomal recessive disorder characterized by the deficiency of galactokinase enzyme due to missense mutations in GALK1 gene, which is associated with various manifestations such as hypergalactosemia and formation of cataracts. Systematically searched for the mutations that have been reported in the GALK1 protein that cause galactosemia type 2. Genetic variations form the basis of the evolution; however, not all genetic mutations are disease-causing	Homo sapiens

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Release 2023.1 (January 2023)