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PIGO gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PIGO gene

The PIGO gene provides instructions for an enzyme component required to complete the assembly of GPI anchors, which attach proteins to the cell membrane.

Normal Function

The PIGO gene provides instructions for making one part of an enzyme called GPI ethanolamine phosphate transfer 3 (GPI-ET3). The other part of the GPI-ET3 enzyme is produced from a gene called PIGF. The GPI-ET3 enzyme is involved in a series of steps that produce a molecule called a glycosylphosphosphatidylinositol (GPI) anchor. Specifically, this enzyme adds a molecule of ethanolamine phosphate to the end of the forming GPI anchor. This step is essential for the anchor to bind to various proteins and subsequently attach to the outer surface of the cell membrane.

Health Conditions Related to Genetic Changes

Mabry syndrome

At least three mutations in the PIGO gene have been found to cause Mabry syndrome, a condition characterized by intellectual disability, distinctive facial features, and increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia). These mutations change single protein building blocks (amino acids) in the GPI-ET3 enzyme, making it less able to add ethanolamine phosphate to the end of GPI anchors.

The incomplete GPI anchor cannot attach to proteins; without the anchor, the proteins cannot bind to the cell membrane and are released from the cell. An enzyme called alkaline phosphatase is normally attached to the cell membrane by a GPI anchor. When the anchor is impaired, alkaline phosphatase is released from the cell, which is responsible for the hyperphosphatasia seen in Mabry syndrome.

Other Names for This Gene

  • FLJ00135
  • GPI ethanolamine phosphate transferase 3
  • phosphatidylinositol glycan anchor biosynthesis, class O
  • phosphatidylinositol-glycan biosynthesis class O protein
  • PIG-O
  • PIGO_HUMAN

Frequently Asked Questions

Mabry syndrome typically presents with intellectual disability, distinctive facial features (e.g., broad nasal bridge, mild micrognathia), and markedly elevated serum alkaline phosphatase (ALP). Some individuals also have seizures, developmental delays, and mild skeletal abnormalities. Early recognition allows for timely supportive therapies.
Elevated ALP in Mabry syndrome reflects loss of GPI‑anchored alkaline phosphatase from the cell membrane due to defective GPI anchor synthesis. It is a biomarker for disease severity but does not directly correlate with neurological symptoms. Monitoring ALP can help assess treatment response or disease progression.
Management is supportive: physical, occupational, and speech therapy for developmental delays; seizure control with antiepileptics; and monitoring for metabolic complications. No specific enzyme replacement exists yet, but research into GPI anchor biosynthesis modulators is ongoing. Regular follow‑ups with a metabolic specialist and neurologist are advised.
Confirmatory testing involves targeted sequencing of the PIGO gene or whole‑exome sequencing. Prior to testing, ensure fasting status is not required, but bring a list of current medications and any family history of similar symptoms. Genetic counseling is recommended to discuss implications.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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