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Article

FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.

EMBO reports - 5 Oct 2020

Hoffmann Saskia, Pentakota Satyakrishna, Mund Andreas, Haahr Peter, Coscia Fabian, Gallo Marta, Mann Matthias, Taylor Nicholas Mi, Mailand Niels

Abstract excerpt

Dominant missense mutations in the human serine protease FAM111A underlie perinatally lethal gracile bone dysplasia and Kenny-Caffey syndrome, yet how FAM111A mutations lead to disease is not known. We show that FAM111A proteolytic activity suppresses DNA replication and transcription by displacing key effectors of these processes from chromatin, triggering rapid programmed cell death by Caspase-dependent...

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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: 32776417
DOI: 10.15252/embr.202050662
PMCID: PMC7534640

Genes

FAM111A
FAM111B

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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