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http://ghr.nlm.nih.gov/gene/ALK
Genes >
ALK
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Reviewed March 2011
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translocation fuses the ALK gene to the NPM gene and results in a fusion protein called NPM-ALK. In addition, at least seven translocations involving the ALK gene have been identified in inflammatory myofibroblastic tumor (IMT). IMT is a rare cancer characterized by a solid tumor composed of inflammatory cells and cells called myofibroblasts that are important in wound healing. About half of people with IMT have a translocation involving the ALK gene. Another type of rearrangement, called an inversion, occurs when chromosome 2 is broken in two places and the resulting piece of DNA is reversed and re-inserted into the chromosome. A small group of people with non-small cell lung cancer, the most common type of lung cancer, have an inversion of chromosome 2. This inversion fuses the ALK gene with another gene called EML4 and results in the EML4-ALK fusion protein. The fusion proteins created by these rearranged genes have functions of both anaplastic lymphoma kinase and the partner protein. The presence of the partner protein allows phosphorylation of anaplastic lymphoma kinase without dimerization. The fusion protein and signaling pathways activated by anaplastic lymphoma kinase are constitutively activated, which may abnormally increase the proliferation of immature nerve cells, leading to cancer formation.
The ALK gene is located on the short (p) arm of chromosome 2 at position 23. More precisely, the ALK gene is located from base pair 29,415,639 to base pair 30,144,476 on chromosome 2. See How do geneticists indicate the location of a gene? in the Handbook.
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- Clinical summary
You may also be interested in these resources, which are designed for genetics professionals and researchers. PubMed - Recent literature
OMIM - Genetic disorder catalog (2 links) Research Resources - Tools for researchers (5 links)
What other names do people use for the ALK gene or gene products?
ALK tyrosine kinase receptor anaplastic lymphoma kinase CD246 CD246 antigen NBLST3 See How are genetic conditions and genes named? in the Handbook.
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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? in the Handbook.
Reviewed: March 2011 Published: December 17, 2012 Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine , National Institutes of Health Department of Health & Human Services , USA.gov Freedom of Information Act Copyright Privacy Accessibility
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