| Primary Identifier | MGI:1917680 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 70430 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable alpha-tubulin binding activity. Acts upstream of or within several processes, including adult locomotory behavior; muscle atrophy; and peripheral nervous system neuron axonogenesis. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm. Is expressed in several structures, including liver; nervous system; sensory organ; thymus primordium; and urinary system. Human ortholog(s) of this gene implicated in Kenny-Caffey syndrome type 1; hypoparathyroidism; and hypoparathyroidism-retardation-dysmorphism syndrome. Orthologous to human TBCE (tubulin folding cofactor E). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit progressive caudal-cranial motor neuron degeneration, beginning around 3 weeks and culminating in death due to respiratory paralysis by 7 weeks. The sciatic and phrenic nerves are especially affected. [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
