This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Function:
Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors.
Subcellular Location:
Secreted, extracellular space, extracellular matrix.
Tissue Specificity:
Highly expressed in fetal adrenal, in fetal testis, fetal smooth, striated and cardiac muscle. Isoform XB-short is only expressed in the adrenal gland.
DISEASE:
Tenascin-X deficiency (TNXD) [MIM:601288]: TNXD leads to an Ehlers-Danlos-like syndrome characterized by hyperextensible skin, hypermobile joints, and tissue fragility. Tenascin-X-deficient patients, however, lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos. Delayed wound healing, which is also common in classic EDS, is only present in a subset of patients. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the tenascin family.
Contains 19 EGF-like domains.
Contains 1 fibrinogen SLCterminal domain.
Contains 32 fibronectin type-III domains.
SWISS:
P22105
Gene ID:
7148
Database links:
Entrez Gene: 7148 Human
Entrez Gene: 81877 Mouse
Omim: 600985 Human
SwissProt: P22105 Human
Unigene: 485104 Human
Unigene: 290527 Mouse
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