| 简介 | Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]
Diseases associated with GALK1 include Galactosemia Ii and Epidermolysis Bullosa, Junctional 5A, Intermediate. Among its related pathways are Diseases of glycosylation and D-galactose degradation V (Leloir pathway). Gene Ontology (GO) annotations related to this gene include galactose binding and galactokinase activity. An important paralog of this gene is GALK2.
Catalyzes the transfer of a phosphate from ATP to alpha-D-galactose and participates in the first committed step in the catabolism of galactose.
cytosol{PubMed:8908517}5
Quaternary structure:
Homodimer. |
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