PRSS53

Chr 16

serine protease 53

Also known as: POL3S, UNQ308

NCBI Gene: 339105 ENSG00000151006 UniProt: Q2L4Q9 OMIM: 610561

The PRSS53 protein functions as a serine endopeptidase that degrades fibrinogen alpha chain and pro-urokinase-type plasminogen activator in the extracellular space. This gene is not highly constrained against loss-of-function variants (pLI nearly 0, LOEUF >1), and no specific disease associations have been established in the provided data. Clinical phenotypes associated with PRSS53 mutations remain to be defined.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.36

LOEUF

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Mechanism