| Primary Identifier | MGI:2685351 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 244666 |
| 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 DNA binding activity; K63-linked polyubiquitin modification-dependent protein binding activity; and metalloendopeptidase activity. Involved in protein-DNA covalent cross-linking repair. Predicted to be located in chromatin and nuclear speck. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Ruijs-Aalfs syndrome. Orthologous to human SPRTN (SprT-like N-terminal domain). PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele exhibit symptoms of progeria (lordokyphosis, cataracts, cachexia, reduced total fat mass and decreased exercise performance). Inducible homozygous knockout in MEFs leads to chromosomal instability. [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
