TNXB

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]

TNXB Gene(Protein Coding) Tenascin XB

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.

Biological Process actin cytoskeleton organization Source:UniProtKB
Biological Process cell adhesion Source:UniProtKB
Biological Process cell-cell adhesion Source:Ensembl
Biological Process cell-matrix adhesion Source:Ensembl
Biological Process collagen fibril organization Source:Ensembl
Biological Process collagen metabolic process Source:UniProtKB1 Publication
Biological Process elastic fiber assembly Source:UniProtKB1 Publication
Biological Process extracellular matrix organization Source:GO_Central1 Publication
Biological Process fatty acid metabolic process Source:Ensembl
Biological Process positive regulation of cell fate determination Source:ComplexPortal1 Publication
Biological Process positive regulation of collagen fibril organization Source:ComplexPortal1 Publication
Biological Process regulation of cell adhesion Source:GO_Central1 Publication
Biological Process regulation of cell differentiation Source:ComplexPortal1 Publication
Biological Process regulation of JUN kinase activity Source:Ensembl
Biological Process triglyceride metabolic process Source:Ensembl

Secreted, extracellular space, extracellular matrix

Ehlers-Danlos syndrome, classic-like (EDSCLL):
A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive.
Vesicoureteral reflux 8 (VUR8):
A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.