Gene Symbol | GALK1 |
Entrez Gene ID | 2584 |
Full Name | galactokinase 1 |
Synonyms | GALK,GK1,HEL-S-19 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Galactokinase deficiency with cataracts, 230200 (3) |