| Primary Identifier | MGI:95755 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 20525 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables D-glucose transmembrane transporter activity; dehydroascorbic acid transmembrane transporter activity; and fucose transmembrane transporter activity. Involved in D-glucose transmembrane transport and dehydroascorbic acid transport. Acts upstream of or within cellular response to glucose starvation. Located in several cellular components, including basolateral plasma membrane; nucleus; and photoreceptor inner segment. Is active in Golgi membrane. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and sensory organ. Used to study glucose transporter type 1 deficiency syndrome 1. Human ortholog(s) of this gene implicated in epilepsy (multiple); glucose transporter type 1 deficiency syndrome (multiple); myelomeningocele; obesity; and type 2 diabetes mellitus. Orthologous to human SLC2A1 (solute carrier family 2 member 1). PHENOTYPE: Homozygous null embryos are small, lack visibly detectable eyes, show a diminutive rostral embryonic pole and an overall developmental delay, and die at E10-E14. Heterozygotes show spontaneous seizures, impaired motor performance, hypoglycorrhachia, microencephaly, and reduced brain glucose uptake. Mice homozygous for the p.P485L mutation die immediately after birth. [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
