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Article

A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.

American journal of human genetics - 1 Oct 2008

Salo Antti M, Cox Helen, Farndon Peter, Moss Celia, Grindulis Helen, Risteli Maija, Robins Simon P, Myllylä Raili

Abstract excerpt

Lysyl hydroxylase 3 (LH3, encoded by PLOD3) is a multifunctional enzyme capable of catalyzing hydroxylation of lysyl residues and O-glycosylation of hydroxylysyl residues producing either monosaccharide (Gal) or disaccharide (Glc-Gal) derivatives, reactions that form part of the many posttranslational modifications required during collagen biosynthesis. Animal studies have confirmed the importance of LH3,...

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Source

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Identifiers

PMID: 18834968
DOI: 10.1016/j.ajhg.2008.09.004
PMCID: PMC2561927

Genes

PLOD3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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