PRSS8

Chr 16

serine protease 8

Also known as: CAP1, PROSTASIN

NCBI Gene: 5652 ENSG00000052344 UniProt: Q16651

This gene encodes a serine protease that cleaves protein substrates at lysine or arginine residues and stimulates epithelial sodium channel activity through proteolytic activation of the gamma subunit. Mutations cause autosomal recessive hypotrichosis simplex, characterized by sparse hair growth from birth. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.69

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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