| Primary Identifier | MGI:3045345 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 245532 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables retinol O-fatty-acyltransferase activity. Acts upstream of or within wax biosynthetic process. Located in endoplasmic reticulum membrane. Used to study dry eye syndrome. Orthologous to human AWAT2 (acyl-CoA wax alcohol acyltransferase 2). PHENOTYPE: Null mice develop evaporative dry eye disease with progressive corneal damage, degeneration of Meibomian glands and inflammation. Wax esters are almost absent and cholesteryl esters are increased in meibum resulting in increased viscosity of meibum. Mice also show some skin abnormalities. [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
