| Primary Identifier | MGI:97303 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 18004 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 14-3-3 protein binding activity. Involved in regulation of DNA damage checkpoint. Acts upstream of or within several processes, including DNA damage response; response to ionizing radiation; and spermatogenesis. Located in centrosome and nucleus. Is expressed in several structures, including ganglia; gut; hemolymphoid system gland; metanephros; and reproductive system. Used to study autosomal recessive polycystic kidney disease. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 24; asphyxiating thoracic dystrophy; orofaciodigital syndrome II; and short-rib thoracic dysplasia 6 with or without polydactyly. Orthologous to human NEK1 (NIMA related kinase 1). PHENOTYPE: Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background. [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
