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MGP001148

UniProt Annotations

Entry Information
Gene Namegalactokinase 1
Protein EntryGALK1_HUMAN
UniProt IDP51570
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51570-1; Sequence=Displayed; Name=2; IsoId=P51570-2; Sequence=VSP_055079; Note=No experimental confirmation available.;
Catalytic ActivityATP + alpha-D-galactose = ADP + alpha-D- galactose 1-phosphate.
DiseaseGalactosemia II (GALCT2) [MIM:230200]: Autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses. {ECO:0000269|PubMed:10521295, ECO:0000269|PubMed:10790206, ECO:0000269|PubMed:11139256, ECO:0000269|PubMed:11231902, ECO:0000269|PubMed:15024738}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMajor enzyme for galactose metabolism.
PathwayCarbohydrate metabolism; galactose metabolism.
SimilarityBelongs to the GHMP kinase family. GalK subfamily. {ECO:0000305}.
SubunitHomodimer. {ECO:0000305|PubMed:15590630}.
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