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 ?
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.
In contrary, some of the autophagy- elongation relevant proteins are LC3B, ATG4B, ATG7, ATG16L1 and ATG5 which are not essential for aBCV formation (Collins et al.
Researchers have linked the disease to glitches in nearly 200 genes, including ATG16L1 and NOD2, which typically help kill bad bacteria.
IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes.
En macrofagos, NOD1 y NOD2 reclutan la proteina ATG16L1 de autofagia, al sitio de la membrana celular donde se ha internalizado el microorganismo, mientras que en celulas mutantes para NOD2, no hubo "captura" del patogeno porque no fue formado adecuadamente el autofagosoma (22, 23).
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).
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.