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KLKB1

Function

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.

Involvement in disease

Prekallikrein deficiency

PKKD

An autosomal recessive condition characterized by a clotting defect due to prolongation of activated partial thromboplastin time. Affected individuals are clinically asymptomatic.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the peptidase S1 family. Plasma kallikrein subfamily.

Tissue Specificity

Found in plasma (at protein level).

Cellular localization

Alternative names

KLK3, KLKB1, Plasma kallikrein, Fletcher factor, Kininogenin, Plasma prekallikrein, PKK

swissprot:P03952 omim:229000 entrezGene:3818