SERPINF2 gene

serpin family F member 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

From UniProt:

Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin.

From NCBI Gene:

  • Anti-plasmin deficiency, congenital

From UniProt:

Alpha-2-plasmin inhibitor deficiency (APLID): An autosomal recessive disorder resulting in severe hemorrhagic diathesis. [MIM:262850]

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3

Molecular Location: base pairs 1,742,808 to 1,755,265 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3
  • A2AP
  • AAP
  • ALPHA-2-PI
  • API
  • PLI