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Article

Mutations of the serine protease CAP1/Prss8 lead to reduced embryonic viability, skin defects, and decreased ENaC activity.

The American journal of pathology - 1 Aug 2012

Frateschi Simona, Keppner Anna, Malsure Sumedha, Iwaszkiewicz Justyna, Sergi Chloé, Merillat Anne-Marie, Fowler-Jaeger Nicole, Randrianarison Nadia, Planès Carole, Hummler Edith

Abstract excerpt

CAP1/Prss8 is a membrane-bound serine protease involved in the regulation of several different effectors, such as the epithelial sodium channel ENaC, the protease-activated receptor PAR2, the tight junction proteins, and the profilaggrin polypeptide. Recently, the V170D and the G54-P57 deletion mutations within the CAP1/Prss8 gene, identified in mouse frizzy (fr) and rat hairless (fr(CR)) animals, respectively,...

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Identifiers

PMID: 22705055
DOI: 10.1016/j.ajpath.2012.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutations of the serine protease CAP1/Prss8 lead to reduced embryonic viability, skin defects, and decreased ENaC activity.PMID 22705055Read ↗

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