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GenoLensGenoLens

KLKB1

Chr 4q35.2

kallikrein B1

MANE:
ENST00000264690.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited bleeding disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • inherited prekallikrein deficiency

    0.70
  • prekallikrein deficiency

    0.67
  • hereditary angioedema

    0.59
  • Congenital prekallikrein deficiency

    0.56
  • venous thromboembolism

    0.50
  • blood coagulation disease

    0.49
  • angioedema

    0.45
  • serum lipopolysaccharide activity

    0.42
  • hemorrhage

    0.39
  • heart disorder

    0.37

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

Protein function (UniProt)

Plasma kallikrein

Participates in the surface-dependent activation of blood coagulation. Activates, in a reciprocal reaction, coagulation factor XII/F12 after binding to negatively charged surfaces. Releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin

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.