|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “autophagy related 16-like 1.”
ATG16L1 is the gene's official symbol. The ATG16L1 gene is also known by other names, listed below.
The ATG16L1 gene provides instructions for making a protein called autophagy related 16-like 1. This protein is part of a larger family of proteins that are 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.
The ATG16L1 gene belongs to a family of genes called WDR (WD repeat domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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). This increased risk has been found primarily in white populations. The identified ATG16L1 variation changes a single protein building block (amino acid) in a critical region of the autophagy related 16-like 1 protein. Specifically, it replaces the amino acid threonine with the amino acid alanine at protein position 300 (written as Thr300Ala or T300A).
The effects of variations in the ATG16L1 gene on Crohn disease risk are unclear. Changes in this gene may affect 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
Molecular Location on chromosome 2: base pairs 233,251,571 to 233,295,674
The ATG16L1 gene is located on the long (q) arm of chromosome 2 at position 37.1.
More precisely, the ATG16L1 gene is located from base pair 233,251,571 to base pair 233,295,674 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ATG16L1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
alanine ; amino acid ; apoptosis ; autophagy ; bacteria ; cell ; chronic ; critical region ; digestive ; domain ; gene ; ileum ; immune system ; inflammation ; intestine ; nucleotide ; polymorphism ; protein ; single nucleotide polymorphism ; threonine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.