| Primary Identifier | MGI:1919214 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 108888 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP hydrolysis activity; identical protein binding activity; and protein serine/threonine kinase inhibitor activity. Predicted to be involved in several processes, including antiviral innate immune response; mitochondrion organization; and negative regulation of PERK-mediated unfolded protein response. Located in mitochondrion. Is expressed in several structures, including brain; femur; hemolymphoid system; liver; and lung. Human ortholog(s) of this gene implicated in Harel-Yoon syndrome and neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome. Orthologous to several human genes including ATAD3A (ATPase family AAA domain containing 3A). PHENOTYPE: Mice homozygous for a gene trapped allele die around E7.5 exhibiting growth retardation, failure to gastrulate, and impaired development of the trophoblast lineage immediately after implantation. Conditional homozygous KO in skeletal muscle causes progressive myopathy as a result of abnormal mitochondrial morphology. [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
