FGB

Chr 4

fibrinogen beta chain

Also known as: HEL-S-78p

NCBI Gene: 2244 ENSG00000171564 UniProt: P02675

The fibrinogen beta chain is cleaved by thrombin to form fibrin monomers that polymerize into blood clots and plays essential roles in hemostasis, wound repair, and antimicrobial host defense. Mutations cause congenital afibrinogenemia, dysfibrinogenemia, and hypofibrinogenemia, presenting with bleeding disorders of variable severity. Inheritance is autosomal recessive for severe forms and autosomal dominant for milder variants.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital afibrinogenemia

UniProtDysfibrinogenemia, congenital

Clinical highlights

Gene-disease validity (ClinGen)

congenital fibrinogen deficiency · SDDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

102

Pubs (1 yr)

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P/LP submissions

—

P/LP missense

0.43

LOEUF

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Mechanism

Some data sources returned errors (1)