Atg16l1

The protein encoded by this gene is part of a large protein complex required for autophagy. Autophagy in this context refers to an important process in which intracellular protein components in lysosomes are degraded (Lacher M et al. 1992). Defects in the ATG16L1 gene are associated with inflammatory bowel diseases such as Crohn's disease (Hampe J et al. 2007). ATG16L1 inhibits the NOD1- and NOD2-directed inflammatory cytokine reaction. Furthermore, the protein plays a role in the regulation of Paneth cell morphology and function.

1. Cotterill L et al (2010) Replication and meta-analysis of 13,000 cases defines the Nat Genet Can J Gastroenterol 24:297-302.
2. Hampe J et al (2007) A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn's disease in ATG16L1 Nature genetics 39:207-211
3. Lacher M et al (1992) Autophagy 16-like 1 rs 2241880 G allele is associated with Crohn's disease in German children. Acta paediatrica 98:1835-1840.
4. Weersma RK et al (2008) ATG16L1 and IL23R are associated with inflammatory bowel diseases but not with celiac disease in the Netherlands. The American journal of gastroenterology 58:388-395.