PCYT2: Phosphocholine Cytidylyltransferase 2
A key enzyme in phospholipid biosynthesis, associated with hereditary spastic paraplegia and lipid metabolism disorders.
Gene Information Card
| Symbol | PCYT2 |
|---|---|
| Full Name | Phosphate cytidylyltransferase 2, ethanolamine |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 5833 ncbi.nlm.nih.gov/gene/5833 |
| Ensembl ID | ENSG00000108823 |
| UniProt ID | Q99447 |
| OMIM ID | 611926 |
| HGNC ID | 8755 |
| Aliases | ET, CTP:phosphoethanolamine cytidylyltransferase, Pcyt2 |
Description
PCYT2 encodes the enzyme phosphoethanolamine cytidylyltransferase, which catalyzes the rate-limiting step in the CDP-ethanolamine branch of phosphatidylethanolamine biosynthesis. This enzyme converts phosphoethanolamine and CTP to CDP-ethanolamine, a precursor for membrane phospholipid synthesis. Mutations in PCYT2 cause autosomal recessive hereditary spastic paraplegia type 82 (SPG82), characterized by progressive lower limb spasticity and neuropathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia 82 (SPG82) | Loss-of-function mutations impair CDP-ethanolamine synthesis, disrupting membrane lipid homeostasis in neurons. | ClinVar, OMIM |
| Neurodevelopmental disorder with spasticity and cataracts | Biallelic PCYT2 variants lead to reduced enzyme activity, affecting myelin and synaptic membrane formation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.2 | High |
| Skeletal muscle | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.2 | Medium expression |
| SH-SY5Y | 16.5 | High expression in neuronal cells |
| HepG2 | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | Missense | Rare | Reduced catalytic activity; associated with SPG82 |
| c.587G>A (p.Arg196His) | Missense | Rare | Impaired substrate binding; reported in neurodevelopmental disorder |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein; pathogenic in compound heterozygosity |
Mutation functional classification
Loss of Function (LOF)
Most PCYT2 mutations are loss-of-function, reducing or abolishing phosphoethanolamine cytidylyltransferase activity, leading to phosphatidylethanolamine deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycerophospholipid metabolism (KEGG: hsa00564)
• Phosphatidylethanolamine biosynthesis (Reactome: R-HSA-1483191)
Protein Summary
PCYT2 is a 389-amino acid protein that forms homodimers and catalyzes the second step of the Kennedy pathway for phosphatidylethanolamine synthesis. It is localized to the cytoplasm and endoplasmic reticulum, with highest expression in brain and testis. The enzyme is allosterically regulated by phospholipids and is essential for membrane biogenesis, particularly in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCYT2 Knockout HEK293 Cell Line | EDJ-KQ5616 | Human | 5833 | Details Get a Quote |
| PCYT2 Knockout HCT 116 Cell Line | EDJ-KQ28917 | Human | 5833 | Details Get a Quote |
| PCYT2 Knockout HeLa Cell Line | EDJ-KQ28918 | Human | 5833 | Details Get a Quote |
| PCYT2 Knockout A-549 Cell Line | EDJ-KQ28916 | Human | 5833 | Details Get a Quote |
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