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PLAT

Chr 8p11.21

plasminogen activator, tissue type

MANE:
ENST00000220809.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Inherited bleeding disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Thrombophilia with a likely monogenic cause

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • pulmonary embolism

    0.61
  • myocardial infarction

    0.59
  • hemorrhage

    0.59
  • acute myocardial infarction

    0.57
  • stroke disorder

    0.51
  • Recurrent thrombophlebitis

    0.50
  • heart failure

    0.47
  • ST Elevation Myocardial Infarction

    0.46
  • ischemic stroke

    0.45
  • Stroke

    0.43

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tissue-type plasminogen activator

Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. During oocyte activation, plays a role in cortical granule reaction in the zona reaction, which contributes to the block to polyspermy (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.