Primary Identifier | MGI:101850 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 77593 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cysteine-type deubiquitinase activity. Involved in photoreceptor cell maintenance. Predicted to be located in cytosol; nucleoplasm; and photoreceptor inner segment. Used to study Leber congenital amaurosis 19. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 19. Orthologous to human USP45 (ubiquitin specific peptidase 45). PHENOTYPE: Homozygous null mice exhibit reduced scotopic and photopic responses and fewer cones [provided by MGI curators] |