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The official name of this gene is “tenascin XB.”
TNXB is the gene's official symbol. The TNXB gene is also known by other names, listed below.
The TNXB gene provides instructions for making a protein called tenascin-X. This protein plays an important role in organizing and maintaining the structure of tissues that support the body's muscles, joints, organs, and skin (connective tissues). In particular, studies suggest that it helps to regulate the production and assembly of certain types of collagen. Collagens are a family of proteins that strengthen and support connective tissues throughout the body. Tenascin-X is also involved in regulating the structure and stability of elastic fibers, which provide flexibility and stretchiness (elasticity) to connective tissues.
The TNXB gene belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing).
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.
Mutations in the TNXB gene cause a very small percentage of all cases of a form of Ehlers-Danlos syndrome called the hypermobility type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. The hypermobility type is characterized by an unusually large range of joint movement (hypermobility). The mutations that cause this form of the disorder occur in one copy of the TNXB gene in each cell. These mutations reduce the amount of functional tenascin-X that cells produce, which decreases the ability of tenascin-X to interact with collagens and elastic fibers. These changes weaken connective tissues in many parts of the body, which results in the signs and symptoms of the hypermobility type of Ehlers-Danlos syndrome.
Some people with a condition called benign joint hypermobility syndrome (BJHS) also make a reduced amount of tenascin-X protein, although no TNXB gene mutations have been identified in these individuals. This condition causes an unusually large range of joint movement (hypermobility) and chronic joint pain. The signs and symptoms of benign joint hypermobility syndrome overlap significantly with those of the hypermobility type of Ehlers-Danlos syndrome. Studies suggest that they may be forms of the same condition.
Some people with Ehlers-Danlos syndrome have mutations in two copies of the TNXB gene in each cell. These individuals have signs and symptoms similar to a form of the condition called the classical type, including hypermobility and skin that is soft, highly stretchy (elastic), and fragile. However, affected individuals do not have the unusual scarring that is characteristic of that type. Mutations that occur in both copies of the TNXB gene prevent production of any tenascin-X protein. A loss of this protein severely disrupts the organization of collagen fibrils and elastic fibers, which significantly weakens connective tissues.
Cytogenetic Location: 6p21.3
Molecular Location on chromosome 6: base pairs 32,041,155 to 32,109,374
The TNXB gene is located on the short (p) arm of chromosome 6 at position 21.3.
More precisely, the TNXB gene is located from base pair 32,041,155 to base pair 32,109,374 on chromosome 6.
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 TNXB 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.
benign ; cell ; chronic ; collagen ; elastic ; gene ; hypermobility ; joint ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference 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.