F13A1
Chr 6ADARcoagulation factor XIII A chain
Also known as: F13A
The F13A1 gene encodes the catalytic A subunit of coagulation factor XIII, a transglutaminase that stabilizes fibrin clots by forming cross-links between fibrin chains and cross-linking plasmin inhibitors and fibronectin to fibrin. Mutations cause factor XIII A subunit deficiency, an autosomal recessive bleeding disorder characterized by lifelong bleeding tendency, poor wound healing, and recurrent pregnancy loss. This gene is extremely constrained against loss-of-function variants (pLI near 1.0), indicating that haploinsufficiency is likely not tolerated in the general population.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
F13A1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools