The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

doi:10.1038/s41467-025-61005-8

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Article

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Nature communications - 1 Jul 2025

Vazquez Neftalí, Lee Chanjae, Valenzuela Irene, Phan Thao P, Derderian Camille, Chávez Marcelo, Mooney Nancie A, Demeter Janos, Aziz-Zanjani Mohammad Ovais, Cusco Ivon, Codina Marta, Martínez-Gil Núria, Valverde Diana, Solarat Carlos, Bruel Ange-Line, Thauvin-Robinet Cristel, Steichen Elisabeth, Filges Isabel, Joset Pascal, De Geyter Julie, Vaidyanathan Krishna, Gardner Tynan P, Toriyama Michinori, Marcotte Edward M, Drew Kevin, Roberson Elle C, Jackson Peter K, Reiter Jeremy F, Tizzano Eduardo F, Wallingford John B

Abstract excerpt

Cilia are essential organelles, and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis, and all but one subunit of the CPLANE complex have been implicated in human ciliopathy. Here, we identify three families in which variants in the remaining CPLANE subunit CPLANE2/RSG1 also cause...

Topics

Humans
Ciliopathies
Cilia
Male
Female
Orofaciodigital Syndromes
Basal Bodies
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenotype

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PMID: 40593758
DOI: 10.1038/s41467-025-61005-8
PMCID: PMC12219219

Genes

CPLANE2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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