TNXB
Developmental stage
Expression levels are lower in adults than in children.
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.
Involvement in disease
Ehlers-Danlos syndrome, classic-like, 1
EDSCLL1
A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL1 patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL1 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the tenascin family.
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.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
HXBL, TNX, TNXB1, TNXB2, XB, TNXB, Tenascin-X, TN-X, Hexabrachion-like protein