Description
Product Characteristics: Function: Plays an essential role inautophagy.
Subunit: Homooligomer. Interacts with ATG5. Part of either the minor and major complexes respectively composed of 4 sets of ATG12-ATG5 and ATG16L1 (400 kDa) or 8 sets of ATG12-ATG5 and ATG16L1 (800 kDa).
Subcellular location: Cytoplasm. Preautophagosomal structure membrane, Peripheral membrane protein. Note: Localized to preautophagosomal structure (PAS) where it is involved in the membrane targeting of ATG5. DISEASE: Genetic variations in ATG16L1 are associated with susceptibility to inflammatory bowel disease type 10 (IBD10). IBD is characterized by a chronic relapsing intestinal inflammation. IBD is subdivided into Crohn disease (CD) and ulcerative colitis phenotypes. IBD10 individuals show the phenotype characteristic to CD. It may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. CD is commonly classified as autoimmune disease. Also known as: ATG16L1, APG16L, IBD10, WDR30, APG16L, ATG16L, FLJ00045, FLJ10035, FLJ10828, FLJ22677.
Target Information: The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]