ATG16L1 gene

autophagy related 16 like 1

The ATG16L1 gene provides instructions for making a protein that is required for a process called autophagy. Cells use this process to recycle worn-out cell parts and break down certain proteins when they are no longer needed. Autophagy also plays an important role in controlled cell death (apoptosis). Additionally, autophagy is involved in the body's inflammatory response and helps the immune system destroy some types of harmful bacteria and viruses.

At least one variation in the ATG16L1 gene is associated with an increased risk of Crohn disease, particularly a form of the disorder that affects the lower part of the small intestine (the ileum) and the colon. This increased risk has been found primarily in people of northern European ancestry. The identified ATG16L1 variation changes a single protein building block (amino acid) in a critical region of the ATG16L1 protein. Specifically, it replaces the amino acid threonine with the amino acid alanine at protein position 300 (written as Thr300Ala or T300A).

This change in the ATG16L1 gene impairs the autophagy process, allowing worn-out cell parts and harmful bacteria to persist when they would otherwise be destroyed. These cell components and bacteria may trigger an inappropriate immune system response, leading to chronic inflammation in the intestinal walls and the digestive problems characteristic of Crohn disease. Researchers continue to study the relationship between changes in the ATG16L1 gene and a person's risk of developing this disorder.

Cytogenetic Location: 2q37.1, which is the long (q) arm of chromosome 2 at position 37.1

Molecular Location: base pairs 233,251,571 to 233,295,674 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 2q37.1, which is the long (q) arm of chromosome 2 at position 37.1
  • APG16 autophagy 16-like
  • APG16L
  • ATG16 autophagy related 16-like 1 (S. cerevisiae)
  • ATG16 autophagy related 16-like protein 1
  • ATG16A
  • ATG16L
  • Autophagy 16-like 1
  • autophagy related 16-like 1
  • autophagy related 16-like 1 (S. cerevisiae)
  • WD repeat domain 30
  • WDR30