| Primary Identifier | MGI:1891259 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 79235 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables O-palmitoyltransferase activity and phosphatidylcholine-retinol O-acyltransferase activity. Involved in lipid storage; maintenance of location in cell; and retinol metabolic process. Acts upstream of or within several processes, including cellular response to leukemia inhibitory factor; positive regulation of lipid transport; and vitamin A metabolic process. Located in endoplasmic reticulum. Is expressed in several structures, including extraembryonic component; gut; midbrain; reproductive system; and retina. Used to study Leber congenital amaurosis 14. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 14 and retinitis pigmentosa. Orthologous to human LRAT (lecithin retinol acyltransferase). PHENOTYPE: Mice homozygous for disruptions in this gene exhibit retinol homeostasis abnormalities and are more susceptible to vitamin A deficiency or display impaired vision associated with abnormal retinol metabolism. Males have testicular hypoplasia/atrophy and reduced mature sperm counts. [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
