Aliases for TNXB Gene
External Ids for TNXB Gene
Previous HGNC Symbols for TNXB Gene
Previous GeneCards Identifiers for TNXB Gene
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]
GeneCards Summary for TNXB Gene
TNXB (Tenascin XB) is a Protein Coding gene. Diseases associated with TNXB include vesicoureteral reflux 8 and ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency. Among its related pathways are PI3K-Akt signaling pathway and MicroRNAs in cancer. GO annotations related to this gene include heparin binding and collagen binding. An important paralog of this gene is TNC.
UniProtKB/Swiss-Prot for TNXB Gene
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.