The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1.

doi:10.1038/ncomms11821

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Article

The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1.

Nature communications - 8 Jun 2016

Boada-Romero Emilio, Serramito-Gómez Inmaculada, Sacristán María P, Boone David L, Xavier Ramnik J, Pimentel-Muiños Felipe X

Abstract excerpt

A coding polymorphism of human ATG16L1 (rs2241880; T300A) increases the risk of Crohn's disease and it has been shown to enhance susceptibility of ATG16L1 to caspase cleavage. Here we show that T300A also alters the ability of the C-terminal WD40-repeat domain of ATG16L1 to interact with an amino acid motif that recognizes this region. Such alteration impairs the unconventional autophagic activity of TMEM59, a...

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PMID: 27273576
DOI: 10.1038/ncomms11821
PMCID: PMC4899871

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TMEM59

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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