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The official name of this gene is “CD40 ligand.”
CD40LG is the gene's official symbol. The CD40LG gene is also known by other names, listed below.
The CD40LG gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, CD40, which is located on the surface of immune system cells known as B cells. B cells are involved in the production of proteins called antibodies or immunoglobulins that help protect the body against infection. There are several classes of antibodies, and each one has a different function in the immune system. B cells are able to mature into the cells that produce immunoglobulin M (IgM) without any signals from other cells. In order for B cells to mature into the cells that produce antibodies of a different class, the CD40 receptor must interact with CD40 ligand. When these two proteins are connected, they trigger a series of chemical signals that instruct the B cell to start making immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE).
CD40 ligand is also necessary for T cells to interact with other cells of the immune system, and it plays a key role in T cell differentiation (the process by which cells mature to carry out specific functions).
The CD40LG gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called TNFSF (tumor necrosis factor (ligand) superfamily).
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.
More than 150 mutations in the CD40LG gene have been found to cause X-linked hyper IgM syndrome. These mutations lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. Mutations in the CD40LG gene also impair the T cell's ability to differentiate and interact with immune system cells. People with X-linked hyper IgM syndrome are more susceptible to infections because they do not have a properly functioning immune system.
Cytogenetic Location: Xq26
Molecular Location on the X chromosome: base pairs 135,730,335 to 135,742,548
The CD40LG gene is located on the long (q) arm of the X chromosome at position 26.
More precisely, the CD40LG gene is located from base pair 135,730,335 to base pair 135,742,548 on the X chromosome.
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 CD40LG 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.
cell ; class ; differentiation ; gene ; immune system ; immunoglobulin ; infection ; ligand ; molecule ; necrosis ; protein ; receptor ; syndrome ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/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.