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Article

FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.

International endodontic journal - 1 Aug 2023

Wang Shih-Kai, Zhang Hong, Wang Yin-Lin, Lin Hung-Ying, Seymen Figen, Koruyucu Mine, Wright J Timothy, Kim Jung-Wook, Simmer James P, Hu Jan C-C

Abstract excerpt

AIM: Biallelic loss-of-function FAM20A mutations cause amelogenesis imperfecta (AI) type IG, better known as enamel renal syndrome (ERS), characterized by severe enamel hypoplasia, delayed/failed tooth eruption, intrapulpal calcifications, gingival hyperplasia and nephrocalcinosis. FAM20A binds to FAM20C, the Golgi casein kinase (GCK) and potentiates its function to phosphorylate secreted proteins critical for...

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Identifiers

PMID: 37159186
DOI: 10.1111/iej.13928
PMCID: PMC10524697

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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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