| Primary Identifier | MGI:98001 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 19892 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including beta-carotene 15,15'-dioxygenase activity; carboxylic ester hydrolase activity; and phospholipid binding activity. Predicted to be involved in several processes, including detection of light stimulus involved in visual perception; retina homeostasis; and terpenoid metabolic process. Located in cytoplasm; nucleus; and plasma membrane. Is expressed in eye and urinary system. Used to study Leber congenital amaurosis 2 and retinitis pigmentosa 20. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; retinitis pigmentosa 20; and retinitis pigmentosa 87. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65). PHENOTYPE: Homozygous null mutants exhibit disorganized outer segment discs, reduced rod function, lack of rhodopsin and lipofuscin flurophores, and over-accumulation of all-trans-retinyl esters in the retinal pigment epithelium. [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
