F13A1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
F13A1 (HGNC:3531) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
coagulation factor XIII A chain
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
F13A
Alias symbols
No aliases found
%HI
36.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.74(Read more about gnomAD LOEUF score)
Cytoband
6p25.1
Genomic Coordinates
GRCh37/hg19: chr6:6144317-6320895 NCBI Ensembl UCSC
GRCh38/hg38: chr6:6144084-6320662 NCBI Ensembl UCSC
MANE Select Transcript
NM_000129.4 ENST00000264870.8 (Read more about MANE Select)
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. {ECO:0000269|PubMed:27363989}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8512
ClinGen Curation ID:
CCID:007103
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • factor XIII, A subunit, deficiency of Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)