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Article

Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor.

Proceedings of the National Academy of Sciences of the United States of America - 13 Jul 2021

Leventea Eleni, Zhu Zhou, Fang Xiaoming, Nikolaeva Yulia, Markham Eleanor, Hirst Robert A, van Eeden Fredericus J M, Malicki Jarema J

Abstract excerpt

Here, we report that important regulators of cilia formation and ciliary compartment-directed protein transport function in secretion polarity. Mutations in cilia genes cep290 and bbs2, involved in human ciliopathies, affect apical secretion of Cochlin, a major otolith component and a determinant of calcium carbonate crystallization form. We show that Cochlin, defective in human auditory and vestibular disorder,...

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Identifiers

PMID: 34244442
DOI: 10.1073/pnas.2102562118
PMCID: PMC8285972

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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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