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Article

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

17 May 2012

Abstract excerpt

Family with sequence similarity 20,-member C (FAM20C) is highly expressed in the mineralized tissues of mammals. Genetic studies showed that the loss-of-function mutations in FAM20C were associated with human lethal osteosclerotic bone dysplasia (Raine Syndrome), implying an inhibitory role of this molecule in bone formation. However, in vitro gain- and loss-of-function studies suggested that FAM20C promotes the...

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PMID: 22615579
DOI: 10.1371/journal.pgen.1002708

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Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in MicePMID 22615579Read ↗

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Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine SyndromeSemantic proximity Read ↗

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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Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.Semantic proximity Read ↗

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