Galactokinase

Galactokinase
	Ribbon model according to PDB 1WUU , substrates as domes
	Existing structural data : 1wuu , 1yh7
Properties of human protein
Mass / length primary structure	392 amino acids
Cofactor	Mg
Identifier
Gene name	GALK1
External IDs	OMIM : 604313 ; UniProt : P51570 ;
Enzyme classification
EC, category	2.7.1.6 , kinase
Response type	Phosphorylation
Substrate	ATP + D- galactose
Products	ADP + galactose-1-phosphate
Occurrence
Homology family	Galactokinase
Parent taxon	Creature

Galactokinase ( galactokinase ; gene : GALK1 ) is that of enzyme that the phosphorylation of D - galactose catalyzed . This is the first step in breaking down this carbohydrate . Galactokinase is found in most living things. Mutations in the GALK1 gene in humans can lead to type 2 galactosemia and cataracts .

Inhibition of galactokinase has been suggested for the treatment of type 1 galactosemia. Galactokinase deficiency is the cause of hereditary cataracts in several dog breeds.

Catalyzed reaction

+ ATP + ADP ${\ displaystyle \ longrightarrow}$

α- D- galactose is phosphorylated to galactose-1-phosphate . Galactosamine is also accepted as a substrate .

Individual evidence

↑ UniProt P51570
↑ Wierenga KJ, Lai K, Buchwald P, Tang M: High-throughput screening for human galactokinase inhibitors . In: J Biomol Screen . 13, No. 5, June 2008, pp. 415-23. doi : 10.1177 / 1087057108318331 . PMID 18490662 .
↑ Sidjanin DJ, McElwee J, Miller B, Aguirre GD: Cloning of canine galactokinase (GALK1) and evaluation as a candidate gene for hereditary cataracts in Labrador retrievers . In: Anim. Genet. . 36, No. 3, June 2005, pp. 265-6. doi : 10.1111 / j.1365-2052.2005.01275.x . PMID 15932415 . PMC 1509098 (free full text).
↑ Aguirre-Hernández J, Wickström K, Sargan DR: The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9 . In: . BMC Vet Res. . 3, 2007, p. 14. doi : 10.1186 / 1746-6148-3-14 . PMID 17623091 . PMC 1933534 (free full text).
↑ EC 2.7.1.6

Web links

Wikibooks: Biochemistry and Pathobiochemistry: Galactose Metabolism - Learning and Teaching Materials

reactome.org: ATP + D -galactose ⇒ ADP + D -galactose 1-phosphate

[1] UniProt P51570

[2] Wierenga KJ, Lai K, Buchwald P, Tang M: High-throughput screening for human galactokinase inhibitors . In: J Biomol Screen . 13, No. 5, June 2008, pp. 415-23. doi : 10.1177 / 1087057108318331 . PMID 18490662 .

[3] Sidjanin DJ, McElwee J, Miller B, Aguirre GD: Cloning of canine galactokinase (GALK1) and evaluation as a candidate gene for hereditary cataracts in Labrador retrievers . In: Anim. Genet. . 36, No. 3, June 2005, pp. 265-6. doi : 10.1111 / j.1365-2052.2005.01275.x . PMID 15932415 . PMC 1509098 (free full text).

[4] Aguirre-Hernández J, Wickström K, Sargan DR: The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9 . In: . BMC Vet Res. . 3, 2007, p. 14. doi : 10.1186 / 1746-6148-3-14 . PMID 17623091 . PMC 1933534 (free full text).

[5] EC 2.7.1.6