功能： alternative products:Additional isoforms seem to exist,caution:Could be the product of a pseudogene. TNXA is transcriptionally active in adrenal cortex but no protein product has been observed.,caution:There are two genes for TN-X: TNXA and TNXB. TNXA is a partial gene which can sometimes recombine with TNXB.,developmental stage:Expression levels are lower in adults than in children.,disease:Association with congenital adrenal hyperplasia.,disease: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: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.,miscellaneous:TNX genes are located in the class III HLA region within a complex locus, named RCCX module, containing genes for RP1/STK19, C4B, CYP21B/CYP21A2 and TNXB. Most chromosomes bear 2 modules, but monomodular and trimodular haplotypes are common in most populations. The bimodular haplotype results from the duplication of the RCCX module, leading to a duplicate containing RP2/RP1 pseudogene, C4A, CYP21A/CYP21A1P and TNXA. TNXA is a duplicated section of TNXB and probably consists in a truncated pseudogene: it contains a 120 bp deletion causing a frameshift and a premature stop codon that probably render the gene non-functional. In some pathologies, an unequal crossover between monomodular and bimodular RCCX results in a chromosome with a TNXB-TNXA hybrid gene, arising from a fusion between the TNXB gene of a monomodular RCCX and the TNXA gene of a bimodular RCCX. The TNXB-TNXA hybrid may corresponds to TNXB-Short gene and may produce a functional protein.,similarity:Belongs to the tenascin family.,similarity:Contains 1 fibrinogen C-terminal domain.,similarity:Contains 19 EGF-like domains.,similarity:Contains 3 fibronectin type-III domains.,similarity:Contains 32 fibronectin type-III domains.,subunit:Homotrimer. Interacts with type I, III and V collagens and tropoelastin via its 29th fibronectin type-III domain.,tissue specificity:Expressed in the adrenal gland.,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.,
组织表达： Highly expressed in fetal adrenal, in fetal testis, fetal smooth, striated and cardiac muscle. Isoform XB-short is only expressed in the adrenal gland.
功能： alternative products:Additional isoforms seem to exist,caution:Could be the product of a pseudogene. TNXA is transcriptionally active in adrenal cortex but no protein product has been observed.,caution:There are two genes for TN-X: TNXA and TNXB. TNXA is a partial gene which can sometimes recombine with TNXB.,developmental stage:Expression levels are lower in adults than in children.,disease:Association with congenital adrenal hyperplasia.,disease: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: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.,miscellaneous:TNX genes are located in the class III HLA region within a complex locus, named RCCX module, containing genes for RP1/STK19, C4B, CYP21B/CYP21A2 and TNXB. Most chromosomes bear 2 modules, but monomodular and trimodular haplotypes are common in most populations. The bimodular haplotype results from the duplication of the RCCX module, leading to a duplicate containing RP2/RP1 pseudogene, C4A, CYP21A/CYP21A1P and TNXA. TNXA is a duplicated section of TNXB and probably consists in a truncated pseudogene: it contains a 120 bp deletion causing a frameshift and a premature stop codon that probably render the gene non-functional. In some pathologies, an unequal crossover between monomodular and bimodular RCCX results in a chromosome with a TNXB-TNXA hybrid gene, arising from a fusion between the TNXB gene of a monomodular RCCX and the TNXA gene of a bimodular RCCX. The TNXB-TNXA hybrid may corresponds to TNXB-Short gene and may produce a functional protein.,similarity:Belongs to the tenascin family.,similarity:Contains 1 fibrinogen C-terminal domain.,similarity:Contains 19 EGF-like domains.,similarity:Contains 3 fibronectin type-III domains.,similarity:Contains 32 fibronectin type-III domains.,subunit:Homotrimer. Interacts with type I, III and V collagens and tropoelastin via its 29th fibronectin type-III domain.,tissue specificity:Expressed in the adrenal gland.,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.,
组织表达： Highly expressed in fetal adrenal, in fetal testis, fetal smooth, striated and cardiac muscle. Isoform XB-short is only expressed in the adrenal gland.
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