| Primary Identifier | MGI:95794 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14725 |
| 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 PDZ domain binding activity; insulin-like growth factor I binding activity; and low-density lipoprotein particle receptor binding activity. Involved in several processes, including circulatory system development; nervous system development; and reproductive structure development. Acts upstream of or within several processes, including circulatory system development; diol metabolic process; and vitamin D metabolic process. Located in several cellular components, including brush border membrane; clathrin-coated pit; and cytoplasmic vesicle. Is expressed in several structures, including egg cylinder; heart and pericardium; metanephros; ureter; and ventricular layer. Used to study Donnai-Barrow syndrome; Fanconi syndrome; and degenerative myopia. Human ortholog(s) of this gene implicated in Donnai-Barrow syndrome and autoimmune thyroiditis. Orthologous to human LRP2 (LDL receptor related protein 2). PHENOTYPE: Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality. [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
