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 8.0.0) Enables galactokinase activity. Involved in galactose catabolic process via UDP-galactose. Acts upstream of or within 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; integumental system; nervous 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] |