| Primary Identifier | MGI:2158560 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 28135 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable K48-linked deubiquitinase activity and molecular adaptor activity. Involved in centriole replication. Acts upstream of or within several processes, including centrosome duplication; meiosis I; and negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator. Located in centriole and centrosome. Is expressed in olfactory epithelium and vomeronasal organ. Used to study Seckel syndrome. Human ortholog(s) of this gene implicated in Seckel syndrome 6. Orthologous to human CEP63 (centrosomal protein 63). PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth defects, microcephaly, thin cerebral cortex, mitotic defects and cell death in neural progenitors, decreased oocyte number, small testis, and severely impaired spermatogenesis and meiotic recombination leading to male infertility. [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
