factor XIII—B subunit—deficiency of

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factor XIII—B subunit—deficiency of2016-11-25T20:00:22+00:00

factor XIII—B subunit—deficiency of

HAEMATOLOGY

Definition An autosomal recessive haematologic disorder (OMIM:613235) characterised by chronic bleeding tendency, impaired wound healing and spontaneous abortion in affected women. 

Molecular pathology Defects of F13B, which encodes coagulation factor 13/XIII B subunit that stabilises A subunits and regulates the rate of transglutaminase formation by thrombin, cause factor XIII—B subunit—deficiency of. 

Synonyms Coagulation factor XIII—B polypeptide, FXIIIB, fibrin-stabilising factor B subunit, TGase, protein-glutamine gamma-glutamyltransferase B chain, coagulation factor XIII B chain, transglutaminase B chain 

References http://www.uniprot.org/uniprot/P05160

http://www.omim.org/entry/613235  

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