ATG16L1

ATG16L1

A gene on chromosome 2q37.1 that encodes a peripheral membrane protein which plays an essential role in autophagy.

Molecular pathology
Genetic variations in ATG16L1 are associated with increased susceptibility to inflammatory bowel disease type 10, especially Crohn’s disease.
References in periodicals archive ?
The genetic mutation of ATG16L1 typically induces cell autophagy and can hinder the body's ability to attack invasive bacteria.
Remarkably, however, when the investigators increase the dose of Lys05, some animals develop symptoms that mimic a known genetic deficiency in an autophagy gene, ATG16L1, which affects some patients with Crohn's disease .
TLR4, which encodes for proteins involved in bacterial recognition, has recently been associated with CD in several populations, (3) as have the IL23R gene in both CD and UC (4) and ATG16L1 and IGRM in CD.
44) provided a crucial addition by reporting a nonsynonymous SNP scan in the same disease, in which they identified a significant association of a coding SNP in ATG16L1 [ATG16 autophagy-related 16-like 1] (44).
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.
These include ATG16L1, a gene coding for a variant protein that leads to a defect in autophagy in Crohn's disease, and ANXA11, a disease gene in srcoidosis probably involved in T cell-apoptosis.
Neither the ATG16L1 gene, nor this specific genetic variation, has been previously implicated in Crohn's disease.