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Article

Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.

Experimental brain research - 1 Mar 2024

Jayarajan Roopasree O, Chakraborty Soura, Raghu Kozhiparambil Gopalan, Purushothaman Jayamurthy, Veleri Shobi

Abstract excerpt

Cilia are organelles extend from cells to sense external signals for tuning intracellular signaling for optimal cellular functioning. They have evolved sensory and motor roles in various cells for tissue organization and homeostasis in development and post-development. More than a thousand genes are required for cilia function. Mutations in them cause multisystem disorders termed ciliopathies. The null mutations...

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Identifiers

PMID: 38231387
DOI: 10.1007/s00221-023-06762-y

Genes

C2
CC2D2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.PMID 38231387Read ↗

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.Semantic proximity Read ↗

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.Semantic proximity Read ↗

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