| 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 7.1.0) Enables dehydroascorbic acid transmembrane transporter activity and glucose transmembrane transporter activity. Involved in dehydroascorbic acid transport and glucose transmembrane 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; central nervous system; early conceptus; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in brain disease (multiple); carbohydrate metabolic disorder (multiple); myelomeningocele; and obesity. 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
