| Primary Identifier | MGI:1328357 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 22248 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable lipid binding activity. Involved in lipoprotein transport; negative regulation of caveolin-mediated endocytosis; and negative regulation of clathrin-dependent endocytosis. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in intercellular bridge and microtubule cytoskeleton. Is expressed in foregut; liver lobe; male reproductive gland or organ; metanephros; and retina layer. Human ortholog(s) of this gene implicated in cone-rod dystrophy and immunodeficiency 13. Orthologous to human UNC119 (unc-119 lipid binding chaperone). PHENOTYPE: Mice homozygous for a null allele exhibit retinal degeneration characterized by thinning of the outer nuclear layer of the retinal that is visible at 6 months and progresses rapidly after 17 to end-stage by 26 months. [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
