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Reviewed October 2013
What is the official name of the LEMD3 gene?
The official name of this gene is “LEM domain containing 3.”
LEMD3 is the gene's official symbol. The LEMD3 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 LEMD3 gene?
The LEMD3 gene provides instructions for making a protein that is located in the inner membrane of the nuclear envelope. The nuclear envelope is a cell structure that surrounds the nucleus, acting as a barrier between the nucleus and the rest of the cell.
The LEMD3 protein helps control two chemical signaling pathways called the transforming growth factor beta (TGF-β) pathway and the bone morphogenic protein (BMP) pathway. Signaling through these pathways turns on (activates) proteins called Smads, which attach (bind) to specific areas of DNA to activate certain genes. The TGF-β and BMP pathways regulate various cellular processes, including cell growth and division (proliferation), the process by which cells mature to carry out special functions (differentiation), and the self-destruction of cells (apoptosis). These pathways are also involved in the growth of new bone.
The LEMD3 protein interacts with Smads to reduce signaling through the BMP and TGF-β pathways. In this way, the LEMD3 protein helps keep signaling at normal levels within the cell.
How are changes in the LEMD3 gene related to health conditions?
Where is the LEMD3 gene located?
Cytogenetic Location: 12q14
Molecular Location on chromosome 12: base pairs 65,169,570 to 65,248,360
The LEMD3 gene is located on the long (q) arm of chromosome 12 at position 14.
More precisely, the LEMD3 gene is located from base pair 65,169,570 to base pair 65,248,360 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about LEMD3?
You and your healthcare professional may find the following resources about LEMD3 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 LEMD3 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 LEMD3?
apoptosis ; bone density ; cell ; connective tissue ; differentiation ; DNA ; domain ; gene ; growth factor ; joint ; mutation ; nuclear envelope ; nuclear membrane ; nucleus ; proliferation ; protein ; syndrome ; tissue ; x-rays
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.