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Article

Functional impact of PROC variants on splicing and protein C activity: evidence for clinical reclassification and RNA therapeutic approaches.

Journal of thrombosis and haemostasis : JTH - 1 Jun 2026

Zhang Huayang, Huang Fei, Zhao Ying, Pan Baishen, Wang Chong, Gu Meixiu, Zhang Chunyan, Guo Wei, Wang Beili

Abstract excerpt

BACKGROUND: Inherited protein C deficiency is an established genetic risk factor for venous thromboembolism. The pathogenic relevance and clinical interpretation of exonic and near-splice PROC variants, however, remain poorly understood. OBJECTIVES: We systematically investigated 15 PROC variants located at exon-intron boundaries (±20 bp) or within coding regions, integrating splicing, protein function, and...

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Identifiers

PMID: 41791661
DOI: 10.1016/j.jtha.2026.02.011

Genes

PROC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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