|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
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 transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI). The TACI protein is found on the cell membrane of B cells. B cells are specialized white blood cells that help protect the body against infection. When B cells mature, they produce special proteins called antibodies (which are also known as immunoglobulins). These proteins attach to specific foreign particles and germs, marking them for destruction. Through interactions with other proteins, TACI promotes cell signaling and plays a role in B cell survival and maturation. TACI is also 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). Most of these mutations 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. It is not clear how mutations in the TNFRSF13B gene prevent normal B cell maturation and antibody production. Some people with TNFRSF13B gene mutations develop CVID, but others do not. A shortage (deficiency) of certain antibodies results in recurrent infections and other signs and symptoms of CVID.
Cytogenetic Location: 17p11.2
Molecular Location on chromosome 17: base pairs 16,842,397 to 16,875,431
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 16,842,397 to base pair 16,875,431 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 ; calcium ; cell ; cell membrane ; deficiency ; gene ; infection ; ligand ; 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://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.