PCYT2

Chr 17AR

phosphate cytidylyltransferase 2, ethanolamine

Also known as: ET, SPG82

NCBI Gene: 5833 ENSG00000185813 UniProt: Q99447 OMIM: 602679

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spastic paraplegia 82, autosomal recessiveMIM #618770

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

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P/LP missense

0.70

LOEUF

LOF

Mechanism· G2P