| Primary Identifier | MGI:1914533 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 67283 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables thiamine pyrophosphate transmembrane transporter activity. Involved in thiamine diphosphate biosynthetic process. Located in mitochondrion. Is active in mitochondrial inner membrane. Is expressed in central nervous system; embryo; retina inner nuclear layer; retina layer; and retina outer nuclear layer. Human ortholog(s) of this gene implicated in inherited metabolic disorder and microcephaly. Orthologous to human SLC25A19 (solute carrier family 25 member 19). PHENOTYPE: Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria. [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
