| Primary Identifier | MGI:1920460 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 269113 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in several processes, including nuclear pore organization; protein localization to nucleus; and regulation of protein import into nucleus. Predicted to be located in nuclear envelope. Predicted to be part of nuclear pore central transport channel. Is expressed in pancreas epithelium. Human ortholog(s) of this gene implicated in dystonia 37, early-onset with striatal lesions. Orthologous to human NUP54 (nucleoporin 54). PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth retardation, a small egg cylinder, disorganized extraembryonic tissue, failure of primitive streak formation and gastrulation, and complete embryonic lethality by E9.5. [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
