| Primary Identifier | MGI:106054 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 19179 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable TBP-class protein binding activity and proteasome-activating activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Part of proteasome regulatory particle. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss. Orthologous to human PSMC1 (proteasome 26S subunit, ATPase 1). PHENOTYPE: Homozygous null mutants are embryonic lethal. Conditional null in cortical neurons causes neurodegeneration and premature death in several different models. [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
