| Primary Identifier | MGI:1354168 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 50500 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables anion binding activity; lipid transfer activity; and vitamin E binding activity. Involved in several processes, including intermembrane lipid transfer; negative regulation of establishment of blood-brain barrier; and vitamin E metabolic process. Acts upstream of or within embryonic placenta development and positive regulation of amyloid-beta clearance. Predicted to be located in cytoplasm. Predicted to be active in late endosome. Is expressed in several structures, including genitourinary system; liver; lung; spleen; and yolk sac. Used to study familial isolated deficiency of vitamin E. Human ortholog(s) of this gene implicated in familial isolated deficiency of vitamin E. Orthologous to human TTPA (alpha tocopherol transfer protein). PHENOTYPE: Homozygotes for targeted null mutations exhibit vitamin E deficiency. Placentas from pregnant females have reduced labyrinthine trophoblasts resulting in midgestational embryonic lethality. Homozygotes for one targeted null allele display late-onset ataxia and retinal degeneration. [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
