ATG16L1

Chr 2

autophagy related 16 like 1

Also known as: APG16L, ATG16A, ATG16L, IBD10, WDR30

NCBI Gene: 55054 ENSG00000085978 UniProt: Q676U5

ATG16L1 encodes a protein that is essential for autophagy, mediating the conjugation of phosphatidylethanolamine to ATG8 family proteins to control autophagosomal membrane elongation and also participating in non-canonical autophagy pathways. Mutations cause susceptibility to inflammatory bowel disease, particularly Crohn disease, with the gene being highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.32). The protein also regulates innate immune responses and Paneth cell function in the intestinal epithelium.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtInflammatory bowel disease 10

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

140

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)