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Article

Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

Gut - 1 Feb 2014

Schnúr Andrea, Beer Sebastian, Witt Heiko, Hegyi Péter, Sahin-Tóth Miklós

Abstract excerpt

OBJECTIVE: Hereditary pancreatitis is caused by mutations in human cationic trypsinogen (PRSS1) which lead to increased autoactivation by altering chymotrypsin C (CTRC)-dependent trypsinogen activation and degradation. Exceptions are some cysteine mutations which cause misfolding, intracellular retention and endoplasmic reticulum stress. Clinical relevance of many PRSS1 variants found in patients with sporadic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23455445
DOI: 10.1136/gutjnl-2012-304331
PMCID: PMC3681892

Genes

PRSS1
CTRC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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