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Article

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Genes - 27 May 2022

Pfeffer Gerald, Lee Grace, Pontifex Carly S, Fanganiello Roberto D, Peck Allison, Weihl Conrad C, Kimonis Virginia

Abstract excerpt

In this work, we review clinical features and genetic diagnosis of diseases caused by mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally diverse AAA-ATPase. VCP is crucial to a multitude of cellular functions including protein quality control, stress granule formation and clearance, and genomic integrity functions, among others. Pathogenic mutations in VCP cause multisystem...

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Identifiers

PMID: 35741724
DOI: 10.3390/genes13060963
PMCID: PMC9222868

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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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