Reviewed January 2009
What is the official name of the LETM1 gene?
The official name of this gene is “leucine zipper-EF-hand containing transmembrane protein 1.”
LETM1 is the gene's official symbol. The LETM1 gene is also known by other names, listed below.
What is the normal function of the LETM1 gene?
The LETM1 gene provides instructions for making a protein whose function is not well understood. This protein is active in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. The LETM1 protein may be involved in the transport of charged calcium atoms (calcium ions) across membranes within mitochondria. Researchers suspect that the protein also plays a role in determining the shape and volume of mitochondria.
How are changes in the LETM1 gene related to health conditions?
Wolf-Hirschhorn syndrome - associated with the LETM1 gene
The LETM1 gene is located in a region of chromosome 4 that is deleted in people with the typical features of Wolf-Hirschhorn syndrome. As a result of this deletion, affected individuals are missing one copy of the LETM1 gene in each cell. Studies suggest that a loss of this gene alters the structure of mitochondria; however, it is unclear how this abnormality is related to the signs and symptoms of Wolf-Hirschhorn syndrome. Specifically, a loss of the LETM1 gene has been associated with seizures or other abnormal electrical activity in the brain.
Where is the LETM1 gene located?
Cytogenetic Location: 4p16.3
Molecular Location on chromosome 4: base pairs 1,784,557 to 1,827,771
The LETM1 gene is located on the short (p) arm of chromosome 4 at position 16.3.
More precisely, the LETM1 gene is located from base pair 1,784,557 to base pair 1,827,771 on chromosome 4.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about LETM1?
You and your healthcare professional may find the following resources about LETM1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the LETM1 gene or gene products?
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 LETM1?
You may find definitions for these and many other terms in the Genetics Home Reference
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
See How can I find a genetics professional in my area? in the Handbook.