Primary Identifier | MGI:1924290 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 77040 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Involved in several processes, including autophagosome assembly; axonal transport; and defense response to virus. Acts upstream of or within macroautophagy; negative stranded viral RNA replication; and telencephalon development. Located in several cellular components, including autophagosome membrane; phagophore assembly site membrane; and sperm midpiece. Part of Atg12-Atg5-Atg16 complex. Is active in glutamatergic synapse. Is expressed in central nervous system and retina. Used to study inflammatory bowel disease 10. Human ortholog(s) of this gene implicated in inflammatory bowel disease 10. Orthologous to human ATG16L1 (autophagy related 16 like 1). PHENOTYPE: Null homozygotes have a cellular defect in autophagy that results in lethality during the neonatal starvation period. Mice homozygous for hypomorphic alleles have Paneth cells with aberrant, disorganized granules similar to those found in patients with Crohn's disease. [provided by MGI curators] |