PLOD1

Chr 1AR

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

Also known as: EDS6, EDSKCL1, LH, LH1, LLH, PLOD

NCBI Gene: 5351 ENSG00000083444 UniProt: Q02809 OMIM: 153454

Lysyl hydroxylase catalyzes the hydroxylation of lysine residues in collagen alpha chains, creating hydroxylysine residues that serve as attachment sites for carbohydrates and are essential for stable intermolecular collagen cross-links. Mutations cause Ehlers-Danlos syndrome, kyphoscoliotic type, which is inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ehlers-Danlos syndrome, kyphoscoliotic type, 1MIM #225400

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.94

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PLOD1