Primary Identifier | MGI:95730 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 14635 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables galactokinase activity. Involved in galactose catabolic process via UDP-galactose. Acts upstream of or within carbohydrate phosphorylation; galactitol metabolic process; and glycolytic process from galactose. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in cataract and galactokinase deficiency. Orthologous to human GALK1 (galactokinase 1). PHENOTYPE: Mice homozygous for a knock-out allele are unable to metabolize galactose, display tissue accumulation of galactose and galactitol, but do not form cataracts even when fed a high galactose diet. [provided by MGI curators] |