| Primary Identifier | MGI:103149 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 22223 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables cysteine-type deubiquitinase activity; ribosome binding activity; and ubiquitin binding activity. Involved in cellular response to xenobiotic stimulus. Acts upstream of or within several processes, including adult walking behavior; axon target recognition; and male germ cell proliferation. Located in several cellular components, including axon; neuron projection terminus; and neuronal cell body. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease; Parkinson's disease; hereditary spastic paraplegia 79A; and hereditary spastic paraplegia 79B. Orthologous to human UCHL1 (ubiquitin C-terminal hydrolase L1). PHENOTYPE: Mice homozygous for one allele show ataxia beginning at 80 days of age, followed by progressive tremors, impaired locomotion, atrophy of hind limb muscles, and death by 5-6 months. Mice homozygous for a second allele exhibit defects in motor coordinationand decreases in thermal pain sensation. [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
