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Article

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Matrix biology : journal of the International Society for Matrix Biology - 1 Dec 2025

Baker Amina, Al Tarrass Mohammad, Chatziantoniou Christos, Kozyraki Renata

Abstract excerpt

FAM20C is part of the FAM20 family and is crucial for phosphorylating secreted proteins. It plays roles in various biological processes, including cellular calcium regulation and cardiovascular function. Pathogenic variants of FAM20C cause Raine syndrome, resulting in osteosclerotic dysplasia or hypophosphatemic rickets. Its paralog, FAM20A, is a secreted pseudokinase needed for optimal FAM20C activity. Mutations...

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Source

Identifiers

PMID: 41241263
DOI: 10.1016/j.matbio.2025.11.002

Genes

FAM20C
FAM20A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.PMID 41241263Read ↗

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Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets.Semantic proximity Read ↗

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