PF4

Chr 4

platelet factor 4

Also known as: CXCL4, PF-4, SCYB4

NCBI Gene: 5196 ENSG00000163737 UniProt: P02776

The protein functions as a CXC chemokine released from activated platelets that regulates platelet aggregation, hematopoiesis, immune cell migration, and has anticoagulant effects through heparin binding. Mutations cause autosomal dominant thrombocytopenia-5, a bleeding disorder characterized by reduced platelet counts and abnormal platelet function. The gene shows low constraint to loss-of-function variation, suggesting that complete loss of protein function may be tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. The protein also exhibits antimicrobial activity against Plasmodium falciparum. [provided by RefSeq, Oct 2014]

ResearchGenerating clinical summary…

Active trials

294

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.73

LOEUF

Mechanism· predicted

Some data sources returned errors (1)