| Primary Identifier | MGI:1928761 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 116914 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables thiamine transmembrane transporter activity. Involved in several processes, including pyridoxine transport; thiamine diphosphate biosynthetic process; and thiamine transport. Acts upstream of or within thiamine transmembrane transport. Is active in plasma membrane. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Used to study thiamine-responsive megaloblastic anemia syndrome. Human ortholog(s) of this gene implicated in diabetes mellitus; megaloblastic anemia; and thiamine-responsive megaloblastic anemia syndrome. Orthologous to human SLC19A2 (solute carrier family 19 member 2). PHENOTYPE: Homozygotes for targeted null alleles exhibit a grossly normal phenotype except for reduced testis size and male infertility. On a low-thiamine diet, mutants show premature death and sensorineural deafness, while homozygotes for one targeted allele also display diabetes mellitus and megaloblastosis. [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
