Gene Symbol | TNXB |
Entrez Gene ID | 7148 |
Full Name | tenascin XB |
Synonyms | EDS3,EDSCLL,HXBL,TENX,TN-X,TNX,TNXB1,TNXB2,TNXBS,VUR8,XB,XBS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3); Vesicoureteral reflux 8, 615963 (3) |