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tenascin-XA; TN-XA (TNXA XA)

Structure: contains 3 fibronectin F3 modules Expression: expressed in the adrenal gland Genetics: - 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 & TNXB - most chromosomes bear 2 modules, but monomodular & 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 & TNXA - TNXA is a duplicated section of TNXB & probably consists in a truncated pseudogene: it contains a 120 bp deletion causing a frameshift & a premature stop codon that probably render the gene non-functional - in some pathologies, an unequal crossover between monomodular & bimodular RCCX results in a chromosome with a TNXB-TNXA hybrid gene, arising from a fusion between the TNXB gene of a monomodular RCCX & the TNXA gene of a bimodular RCCX - the TNXB-TNXA hybrid may corresponds to TNXB-short gene & may produce a functional protein - could be the product of a pseudogene - TNXA is transcriptionally active in adrenal cortex but no protein product has been observed

General

tenascin family

Properties

SIZE: entity length = 311 aa MW = 34 kD COMPARTMENT: plasma membrane MOTIF: fibronectin type III domain or F3 module {41-130} fibronectin type III domain or F3 module {144-239} fibronectin type III domain or F3 module {243-311}

Database Correlations

OMIM 600985 UniProt Q16473 Pfam PF00041

References

UniProt :accession Q16473