F13A1

Gene Information
 
Gene Symbol
F13A1
 
Aliases
F13A
 
Entrez Gene ID
 
Gene Name
Coagulation factor XIII, A1 polypeptide
 
Chromosomal Location
6p25.3-p24.3
 
HGNC ID
 
Summary
This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. (provided by RefSeq, Jul 2008)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein
Protein Information
 
Protein Name
FSF, A subunit, TGase, bA525O21.1 (coagulation factor XIII, A1 polypeptide), coagulation factor XIII, A polypeptide, coagulation factor XIIIa, factor XIIIa, fibrin stabilizing factor, A subunit, fibrinoligase, protein-glutamine gamma-glutamyltransferase A chain, transglutaminase A chain, transglutaminase. plasma
 
Function
Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00927 Transglut_C
PF01841 Transglut_core
PF00868 Transglut_N
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 22565190
   
References
 
Primary:

Androgen levels and metabolic parameters are associated with a genetic variant of F13A1 in women with polycystic ovary syndrome.

Schweighofer N, Lerchbaum E, Trummer O, Schwetz V, Pilz S, Pieber T R, Obermayer-Pietsch B
Medical University of Graz, Division of Endocrinology and Metabolism, Department of Internal Medicine, Auenbruggerplatz 15, 8036 Graz, Austria.
Gene. 2012 Aug 1;504(1):133-9. doi: 10.1016/j.gene.2012.04.050. Epub 2012 Apr 28.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS 
rs7766109 
 
Related 
585 PCOS and 171 controls  
A association of the F13A1 SNP rs7766109 with BMI, androgens, and insulin resistance in PCOS women was found 

 

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