Aliases: Fib2
Chromosome No: 4
Chromosome Band: 4q31.3
Genetic Category: Genetic association-Rare single gene variant
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 10
Evidence score: 0
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Relevance to Autism
Two SNPs in the FGA gene (rs2070025 and rs2070011) showed association with ASD in a Korean case-control population (Ro et al., 2013).
Molecular Function
The protein encoded by this gene is the alpha 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, afibrinogenemia and renal amyloidosis.
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