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The official name of this gene is “tumor necrosis factor receptor superfamily, member 13B.”
TNFRSF13B is the gene's official symbol. The TNFRSF13B gene is also known by other names, listed below.
The TNFRSF13B gene provides instructions for making a protein called TACI. The TACI protein is found on the surface of immune system cells called B cells. These specialized white blood cells help protect the body against infection from foreign invaders such as bacteria and viruses. When B cells mature, they produce special proteins called antibodies (also known as immunoglobulins). Antibodies attach to specific foreign invaders, marking them for destruction. Through interactions with other proteins, TACI promotes cell signaling, plays a role in B cell survival and maturation, and is involved in the production of antibodies.
The TNFRSF13B gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called TNFRSF (tumor necrosis factor receptor 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 25 mutations in the TNFRSF13B gene have been associated with common variable immune deficiency (CVID). This condition impairs the immune system, resulting in recurrent infections; autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs; and an increased risk for certain cancers.
TNFRSF13B gene mutations cause CVID in some people but do not appear to cause immune problems in others. Most of the TNFRSF13B gene mutations associated with CVID change single protein building blocks (amino acids) in the TACI protein. The most common mutation seen in people with CVID replaces the amino acid cysteine with the amino acid arginine at position 104 in the TACI protein (written as Cys104Arg or C104R). This mutation impairs the ability of TACI to interact with other proteins, disrupting cell signaling and preventing normal B cell maturation and antibody production. A shortage (deficiency) of certain antibodies makes it difficult for people with this disorder to fight off infections. Abnormal and deficient immune responses over time likely contribute to the increased cancer risk. In individuals with TNFRSF13B gene mutations who do not have CVID, additional genetic or environmental factors are probably needed for the condition to occur.
Cytogenetic Location: 17p11.2
Molecular Location on chromosome 17: base pairs 16,939,083 to 16,972,087
The TNFRSF13B gene is located on the short (p) arm of chromosome 17 at position 11.2.
More precisely, the TNFRSF13B gene is located from base pair 16,939,083 to base pair 16,972,087 on chromosome 17.
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 TNFRSF13B 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.
acids ; amino acid ; antibody ; arginine ; autoimmune ; bacteria ; cancer ; cell ; cysteine ; deficiency ; gene ; immune system ; infection ; mutation ; necrosis ; protein ; receptor ; transmembrane ; tumor ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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.