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Literature summary 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 .
    View publication on PubMed

Protein Variants

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

Organism

EC Number Organism UniProt Comment Textmining
2.7.1.6 Homo sapiens P51570
-
-

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
2.7.1.6 galactokinase 1
-
 Homo sapiens
2.7.1.6 GALK1
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.7.1.6 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