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Reviewed May 2012
What is the official name of the ITM2B gene?
The official name of this gene is “integral membrane protein 2B.”
ITM2B is the gene's official symbol. The ITM2B gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the ITM2B gene?
The ITM2B gene provides instructions for producing a protein called the integral membrane protein 2B (ITM2B), which is found in all tissues. The function of the ITM2B protein is unclear. It is thought to play a role in triggering the self-destruction of cells (apoptosis) and in keeping cells from growing and dividing too fast or in an uncontrolled way (suppressing tumor formation). Additionally, the ITM2B protein may be involved in processing the amyloid precursor protein, which is produced by the APP gene. Not much is known about amyloid precursor protein function, but it is thought to be involved in nerve cell function in the brain in early development. Processing this protein creates different forms of the protein that can carry out various functions. Research suggests that the ITM2B protein is also involved in preventing (inhibiting) a form of the amyloid precursor protein from accumulating in the body's cells and tissues.
How are changes in the ITM2B gene related to health conditions?
Where is the ITM2B gene located?
Cytogenetic Location: 13q14.3
Molecular Location on chromosome 13: base pairs 48,807,273 to 48,836,231
The ITM2B gene is located on the long (q) arm of chromosome 13 at position 14.3.
More precisely, the ITM2B gene is located from base pair 48,807,273 to base pair 48,836,231 on chromosome 13.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ITM2B?
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the ITM2B gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ITM2B?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
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.