GALK1 Antibody

1. Mutation in the GALK gene is associated with mental disorders in galactosemia. PMID: 28672748
2. The GALK1 gene was included in this interval and direct sequencing. PMID: 24211322
3. Data indicate taht the interactions between galactokinase (GALK) and its potential inhibitors by molecular dynamics simulations. PMID: 23517731
4. The study highlighted the importance of GALK gene analysis in diagnosis of galactosemia in Indian population. PMID: 22632133
5. A possible mechanism for the unfolding caused by the Pro(28)Thr point mutation of human galactokinase. PMID: 21264483
6. Pathogenic mutations in GALK1 that are responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families, are reported. PMID: 20405025
7. 2 new GALK1 mutations near the ATP-binding site were found in a homozygotic Turkish immigrant: S142I and G148C. PMID: 11978883
8. a functional analysis of disease-causing mutations in this enzyme PMID: 12694189
9. In this northern Italian population age-related cataract does not appear to be associated with GALK1 alleles. PMID: 12942049
10. structure and function of galactokinase, and role in type II galactosemia [review] PMID: 15526155
11. active site geometry of this enzyme upon which to more fully understand the consequences of the those mutations known to give rise to Type II galactosemia. PMID: 15590630
12. Mutations in GALK1 resulted in reduction of GALK activity and caused GALK deficiency. PMID: 17517531
13. These results suggest that the elevated GALK1 activity resulted from enhanced gene expression, due to nucleotide variation within GALK1 promoter PMID: 19309526
14. Structure of the human enzyme complexed with MgAMP.PNP and galactose PMID: 15590630
15. The disease-causing point mutations in the human enzyme are mapped onto the structure of the protein from Pyrococcus furiosus and speculations made about the structural consequences. PMID: 15003454
16. 2-deoxy-D-galactose is a substrate for this enzyme. D-glucose, D-fucose, L-arabinose and N-acetyl-D-galactosamine are not. Mutations H44A, H44I, E43G/H44I are insoluble, D46A is inactive, E43G has reduced activity and E43A has wild-type activity. PMID: 14596685
17. Has ordered ternary complex mechanism with ATP being the first substrate to bind. PMID: 12694189

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HGNC: 4118

OMIM: 230200

KEGG: hsa:2584

STRING: 9606.ENSP00000225614

UniGene: Hs.407966