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MGP001017

UniProt Annotations

Entry Information
Gene Namecoagulation factor XIII, B polypeptide
Protein EntryF13B_HUMAN
UniProt IDP05160
SpeciesHuman
Comments
Comment typeDescription
DiseaseFactor XIII subunit B deficiency (FA13BD) [MIM:613235]: An autosomal recessive hematologic disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. {ECO:0000269|PubMed:11313256, ECO:0000269|PubMed:8324218}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe B chain of factor XIII is not catalytically active, but is thought to stabilize the A subunits and regulate the rate of transglutaminase formation by thrombin.
SimilarityContains 10 Sushi (CCP/SCR) domains. {ECO:0000255|PROSITE-ProRule:PRU00302}.
Subcellular LocationSecreted.
SubunitTetramer of two A chains and two B chains.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f13b/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=F&genename=F13B+%40+FXIIIB";
Web ResourceName=Wikipedia; Note=Factor XIII entry; URL="http://en.wikipedia.org/wiki/Factor_XIII";
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