| Primary Identifier | MGI:88052 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 238055 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable several functions, including cholesterol transfer activity; heparin binding activity; and lipase binding activity. Acts upstream of or within several processes, including cholesterol efflux; lipoprotein metabolic process; and triglyceride metabolic process. Located in endoplasmic reticulum. Is expressed in several structures, including brain; extraembryonic component; genitourinary system; gut; and musculature. Used to study familial hypobetalipoproteinemia 2. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); biliary tract cancer (multiple); familial hyperlipidemia (multiple); hypobetalipoproteinemia (multiple); and sickle cell anemia. Orthologous to human APOB (apolipoprotein B). PHENOTYPE: Homozygous null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable. [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
