| Primary Identifier | MGI:1860083 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 54219 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables cargo receptor activity. Involved in cobalamin transport. Acts upstream of or within regulation of vitamin metabolic process. Is active in plasma membrane. Is expressed in several structures, including brain; genitourinary system; heart; immune system; and liver. Used to study methylmalonic acidemia due to transcobalamin receptor defect. Human ortholog(s) of this gene implicated in methylmalonic acidemia due to transcobalamin receptor defect. Orthologous to human CD320 (CD320 molecule). PHENOTYPE: The homozygous mutant and heterozygous mice exhibited an increased mean retinal artery-to-vein ratio when compared with controls. Mice homozygous for a gene trap knock-out allele exhibit vitamin B12 deficiency in the central nervous system. [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
