FGG

Chr 4ARAD

fibrinogen gamma chain

NCBI Gene: 2266 ENSG00000171557 UniProt: P02679 OMIM: 134850

The gamma component of fibrinogen polymerizes with the alpha and beta chains to form fibrin, the primary structural component of blood clots essential for hemostasis and wound repair. Mutations cause congenital afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia, presenting with bleeding disorders of variable severity. Inheritance can be either autosomal recessive or autosomal dominant depending on the specific condition and mutation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is the gamma 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. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Afibrinogenemia, congenitalMIM #202400

Dysfibrinogenemia, congenitalMIM #616004

HypodysfibrinogenemiaMIM #616004

Hypofibrinogenemia, congenitalMIM #202400

UniProtCongenital afibrinogenemia

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

185

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.54

LOEUF

Multiple*

Mechanism· predicted