PCYT2
Chr 17ARphosphate cytidylyltransferase 2, ethanolamine
Also known as: ET, SPG82
This enzyme catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway, which is essential for synthesizing phosphatidylethanolamine, a major membrane phospholipid. Mutations cause spastic paraplegia 82, an autosomal recessive disorder affecting the corticospinal tracts and causing progressive lower limb spasticity. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.702), suggesting some tolerance to complete protein loss.
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
PCYT2 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools