Structural highlights
Disease
[TENX_HUMAN] Defects in TNXB are the cause of tenascin-X deficiency (TNXD) [MIM:606408]. 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.
Function
[TENX_HUMAN] 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.[1]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Egging D, van den Berkmortel F, Taylor G, Bristow J, Schalkwijk J. Interactions of human tenascin-X domains with dermal extracellular matrix molecules. Arch Dermatol Res. 2007 Jan;298(8):389-96. Epub 2006 Oct 11. PMID:17033827 doi:10.1007/s00403-006-0706-9
