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Article

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

Nature genetics - 1 Jun 2004

Topaz Orit, Shurman Daniel L, Bergman Reuven, Indelman Margarita, Ratajczak Paulina, Mizrachi Mordechai, Khamaysi Ziad, Behar Doron, Petronius Dan, Friedman Vered, Zelikovic Israel, Raimer Sharon, Metzker Arieh, Richard Gabriele, Sprecher Eli

Abstract excerpt

Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence...

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Share to Calcinosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

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Share to N-Acetylgalactosaminyltransferases

Share to Polypeptide N-acetylgalactosaminyltransferase

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Source

Identifiers

PMID: 15133511
DOI: 10.1038/ng1358

Genes

GALNT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.PMID 15133511Read ↗

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