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Article

In vitro secretion deficits are common among human coagulation factor XIII subunit B missense mutants: correlations with patient phenotypes and molecular models.

Human mutation - 1 Nov 2013

Biswas Arijit, Thomas Anne, Bevans Carville G, Ivaskevicius Vytautas, Oldenburg Johannes

Abstract excerpt

Coagulation factor XIII (FXIII) proenzyme circulates in plasma as a heterotetramer composed of two each of A and B subunits. Upon activation, the B subunits dissociate from the A subunit dimer, which gains transglutaminase activity to cross-link preformed fibrin clots increasing mechanical strength and resistance to degradation. The B subunits are thought to possess a carrier/protective function before FXIII...

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PMID: 23913518
DOI: 10.1002/humu.22391

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