Factor XIII, A1 Subunit

Alternative Names

  • F13A1
  • F13A
  • Fibrin Stabilizing Factor, A Subunit
  • FSF, A Subunit
  • Fibrinoligase
  • Transglutaminase, Plasma
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OMIM Number

134570

NCBI Gene ID

2162

Uniprot ID

P00488

Length

176,936 bases

No. of Exons

15

No. of isoforms

1

Protein Name

Coagulation Factor XIII A Chain

Molecular Mass

83267 Da

Amino Acid Count

732

Genomic Location

6:6,144,083-6,320,661

Gene Map Locus
6p25.1

Description

Coagulation factor XIII is the last enzyme produced in the blood coagulation cascade. The plasma form of this protein is a hetero-tetramer consisting of two A and two B subunits. Intracellular FXIII, meanwhile, is a homodimer comprising of two A subunits only. Catalytic function is carried out only by the A subunits, and involves acting as a transglutaminase to cross-link fibrin molecules via a gamma-glutamyl-epsilon-lysine link, thereby stabilizing the fibrin clot. Additionally, FXIII also cross-links several other protein substrates in the plasma and subendothelium, including bronectin, von Willebrand factor, vitronectin, collagen, coagulation factor V, thrombospondin, and plasminogen activator inhibitor type 1.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000129.3:c.1475_1476delGALebanonchr6:6174851-6174852PathogenicFactor XIII, A Subunit, Deficiency ofNG_008107.1:g.150840_150841delGA; NM_000129.3:c.1475_1476delGA; NP_000120.2:p.Arg492Ilefs*12
NM_000129.3:c.782G>ASyriaNC_000006.12:g.6248328C>TUncertain SignificancePathogenicFactor XIII, A Subunit, Deficiency ofNG_008107.1:g.77364G>A; NM_000129.3:c.782G>A; NP_000120.2:p.Arg261His12191307116531
NM_000129.4:c.103G>TJordan; LebanonNC_000006.12:g.6318562C>ABenign, Uncertain SignificanceBenign, Uncertain SignificanceStroke, IschemicNG_008107.1:g.7130G>T; NM_000129.4:c.103G>T; NP_000120.2:p.Val35Leu598516532
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