Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.7.1.6 extracted from

  • Okano, Y.; Asada, M.; Fujimoto, A.; Ohtake, A.; Murayama, K.; Hsiao, K.J.; Choeh, K.; Yang, Y.; Cao, Q.; Reichardt, J.K.; Niihira, S.; Imamura, T.; Yamano, T.
    A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, Osaka, in asians (2001), Am. J. Hum. Genet., 68, 1036-1042.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.1.6

Protein Variants

Protein Variants Comment Organism
A198V GALK variant associated with an A198V mutation in three infants with mild GALK deficiency. Km-values from healthy and mutant individuals are similar. The variant A198V probably originates in Japanese and Korean ancestors and is one of the genetic factors that cause cataract in elderly individuals Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.106
-
 D-galactose
-
 Homo sapiens
0.117
-
 D-galactose mutant enzyme A198V Homo sapiens
0.309
-
 ATP
-
 Homo sapiens
0.33
-
 ATP mutant enzyme A198V Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + galactose Homo sapiens galaktokinase deficiency is an autosomal recessive disorder characterized by hypergalactosemia and cataract formation ADP + alpha-D-galactose 1-phosphate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

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 galaktokinase deficiency is an autosomal recessive disorder characterized by hypergalactosemia and cataract formation Homo sapiens ADP + alpha-D-galactose 1-phosphate
-
 ?