| Primary Identifier | MGI:106926 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 17777 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cholesterol transfer activity; phosphatidylethanolamine transfer activity; and triglyceride transfer activity. Involved in circadian rhythm. Acts upstream of or within several processes, including cholesterol homeostasis; lipoprotein transport; and low-density lipoprotein particle remodeling. Located in endoplasmic reticulum. Is expressed in several structures, including gut; liver; placenta; septum transversum hepatic component; and yolk sac. Human ortholog(s) of this gene implicated in several diseases, including abetalipoproteinemia; familial hypercholesterolemia; hyperinsulinism; metabolic dysfunction-associated steatotic liver disease; and obesity. Orthologous to human MTTP (microsomal triglyceride transfer protein). PHENOTYPE: Most embryos homozygous for a reporter allele die at midgestation displaying delayed growth, neurodevelopmental anomalies, impaired erythropoiesis, deficient yolk sac lipoprotein production, hemorrhage and necrosis. Heterozygous mutant mice display altered plasma lipid and lipoprotein profiles. [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
