PLOD1
Chr 1ARprocollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Also known as: EDS6, EDSKCL1, LH, LH1, LLH, PLOD
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PLOD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools