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 ?
* Genotyping of risk variants inNOD2, IRGM, IL23R, ATG16L1 (CD), BTNL2 (sarcoidosis), and FLG (atopy) in 201 OFG only and concurrent intestinal CD patients and 1023 healthy controls suggested that genetic variants of NOD2 are only associated with OFG in patients with concurrent intestinal disease.
Numerous GWAS reports have confirmed that several autophagy-related genetic variations, including ATG16L1 and IRGM, were closely associated with enhanced risk of IBD (25,26).
The tissue sections were stained by ATG16L1 (bs-4007R) and LC3C (bs-20416R) polyclonal antibodies purchased from Bioss [R] and visualized by LSAB System-HRP Dako (K0679).
Macrophages derived from ATG16L1 (autophagy-related 16-like 1)-knockout mice present with a defect in autophagy and exhibit a high production of IL-1p after LPS stimulation44.
Knockout of Atg16L1 led to increased amounts of inflammatory cytokines (IL-1[beta] and IL-18) in the presence of LPS stimulation.
Electron microscopy of Paneth cells in the mutant mice revealed a decreased number of secretory granules, a fragmented ER, and damaged mitochondria, which resembled the morphology of the Paneth cells deficient of autophagy mediator ATG16L1 or ATG5 [24].
Another variation that has been shown to have a strong relation with the disease is the T300A polymorphism in the ATG16L1 gene, which is involved in the occurrence of autophagosome (39).
who found that invasive bacteria induce autophagic responses via binding of bacterial NOD1 ligand to cellular NOD1 at the bacterial entry site, which then triggers autophagy by NOD1 binding to ATG16L1, an autophagy-inducing protein.
Antibodies were rabbit anti-IR-[beta], IRS2, LC3I and II, Atg3, Atg12, Atg16L1, Bcl2, PI3Kp85 (1:500, CST, USA), and mouse anti-GAPDH (1:1000, Abcam, USA).
Hakonarson, "Classification of genetic profiles of Crohn's disease: a focus on the ATG16L1 gene," Expert Review of Molecular Diagnostics, vol.