| Primary Identifier | MGI:1925224 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 77974 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables all-trans-retinol dehydrogenase (NAD+) activity. Involved in cellular detoxification of aldehyde; retinol metabolic process; and visual perception. Located in photoreceptor inner segment. Is expressed in eye. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 13 and Leber hereditary optic neuropathy. Orthologous to human RDH12 (retinol dehydrogenase 12). PHENOTYPE: Deletion of this gene in mice results in slowed kinetics of all-trans-retinal reduction leading to delayed dark adaptation and increased susceptibility to light-induced photoreceptor apoptosis from accelerated 11-cis-retinal production. [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
