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Article

PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.

Clinical genetics - 1 Dec 2025

Karam Adella, Delvallée Clarisse, Gérard Bénédicte, Javey Elodie, Kessler Pascal, Pelletier Valérie, Lamouche Jean-Baptiste, Le May Nicolas, Muller Jean, Dollfus Hélène

Abstract excerpt

PIK3C2A is a member of the class II phosphatidylinositol-3-kinases (PI3K) family that catalyzes the phosphorylation of phosphatidylinositol (PI) into PI(3)P and of PI(4)P into PI(3,4)P2. These second messenger lipids regulate a wide range of downstream signaling pathways involved in many physiological functions and cellular processes, including cell proliferation, growth, survival, motility, and metabolism....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40542664
DOI: 10.1111/cge.70005
PMCID: PMC12580486

Genes

PIK3C2A
SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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