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Article

Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.

Life science alliance - 1 Jul 2023

Gregorczyk Mateusz, Pastore Graziana, Muñoz Ivan, Carroll Thomas, Streubel Johanna, Munro Meagan, Lis Pawel, Lange Sven, Lamoliatte Frederic, Macartney Thomas, Toth Rachel, Brown Fiona, Hastie James, Pereira Gislene, Durocher Daniel, Rouse John

Abstract excerpt

The NEK1 kinase controls ciliogenesis, mitosis, and DNA repair, and NEK1 mutations cause human diseases including axial spondylometaphyseal dysplasia and amyotrophic lateral sclerosis. C21ORF2 mutations cause a similar pattern of human diseases, suggesting close functional links with NEK1 Here, we report that endogenous NEK1 and C21ORF2 form a tight complex in human cells. A C21ORF2 interaction domain "CID" at...

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Identifiers

PMID: 37188479
DOI: 10.26508/lsa.202201740
PMCID: PMC10185812

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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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