| Primary Identifier | MGI:1890380 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 70394 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin filament binding activity. Predicted to be involved in several processes, including cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Predicted to be located in postsynaptic actin cytoskeleton and stereocilium. Predicted to be part of KICSTOR complex and filamentous actin. Predicted to be active in lamellipodium. Used to study autosomal recessive intellectual developmental disorder 41. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 41. Orthologous to human KPTN (kaptin, actin binding protein). PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight on a high-fat diet, increased bacterial counts following S. Typhimurium challenge, postnatal skull and brain overgrowth, hyperactivity, anxiety-like behavior, and cognitive deficits but normal hearing. [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
