| Primary Identifier | MGI:95638 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 14430 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity. Involved in galactose catabolic process via UDP-galactose. Acts upstream of or within glycolytic process from galactose. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm. Is expressed in early tubule; embryo; embryo endoderm; hindgut diverticulum; and renal interstitium. Used to study galactosemia. Human ortholog(s) of this gene implicated in classic galactosemia. Orthologous to human GALT (galactose-1-phosphate uridylyltransferase). PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal galactose metabolism, but lack symptoms of acute toxicity seen in humans with galactosemia. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
