| Primary Identifier | MGI:2443564 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 228361 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable enzyme binding activity and ubiquitin-like ligase-substrate adaptor activity. Involved in positive regulation of autophagy; positive regulation of regulatory T cell differentiation; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including autophagy; negative regulation of neuron apoptotic process; and neural tube development. Located in axoneme; cytosol; and phagocytic vesicle. Is active in cytoplasm and nucleus. Is expressed in main olfactory bulb. Orthologous to human AMBRA1 (autophagy and beclin 1 regulator 1). PHENOTYPE: Most mice homozygous for a gene trap mutation die at E10-E14.5 with severe neural tube defects manifest as midbrain/hindbrain exencephaly and/or spina bifida and associated with impaired autophagy, accumulation of ubiquitinated proteins, abnormal cell proliferation and excessive apoptosis. [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
