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PGAP2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PGAP2 gene

The PGAP2 gene provides instructions for a protein that modifies GPI anchors, which are essential for attaching specific proteins to the cell membrane.

Normal Function

The PGAP2 gene provides instructions for making a protein that modifies a molecule called a glycosylphosphosphatidylinositol (GPI) anchor. The GPI anchor attaches to various proteins and then binds them to the outer surface of the cell membrane, ensuring that they are available when needed.

The GPI anchor is assembled in the endoplasmic reticulum and then transferred to the Golgi apparatus. In the Golgi apparatus, the PGAP2 protein assists in attaching a molecule called a saturated fatty acid to the anchor. This saturated fatty acid is likely needed to help transport and attach the anchor to the fat-rich cell membrane.

Health Conditions Related to Genetic Changes

Mabry syndrome

At least five PGAP2 gene mutations have been found to cause Mabry syndrome. These mutations change single protein building blocks (amino acids) in the PGAP2 protein and likely reduce its activity. As a result, the PGAP2 protein cannot efficiently modify the GPI anchor, impairing the anchor's ability to attach itself and its associated protein to the cell membrane.

Features of Mabry syndrome include:

  • Intellectual disability
  • Distinctive facial features
  • Hyperphosphatasia (increased levels of the enzyme alkaline phosphatase in the blood)

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 this syndrome.

Other Names for This Gene

  • cell wall biogenesis 43 N-terminal homolog
  • CWH43-N
  • FGF receptor activating protein 1
  • FGF receptor-activating protein 1
  • FRAG1
  • PGAP2_HUMAN
  • post-GPI attachment to proteins factor 2

Frequently Asked Questions

Parents often notice developmental delays, speech difficulties, or unusual facial features such as a broad nasal bridge or a slightly flattened nasal tip. A sudden rise in blood alkaline phosphatase levels during routine blood work can also be an early clue. If these signs appear, a geneticist may recommend a targeted PGAP2 test. How is a PGAP2 mutation confirmed and what does the test involve?::A DNA sample, usually from a blood draw or cheek swab, is sent to a specialized laboratory. The lab performs next‑generation sequencing focused on the PGAP2 gene, looking for known pathogenic variants. Results are typically available in 2–4 weeks. What treatment options exist for managing the high alkaline phosphatase seen in Mabry syndrome?::While there is no cure that reverses the underlying gene defect, clinicians often prescribe vitamin B6 (pyridoxine) and monitor liver function. In some cases, low‑dose phosphate‑binding agents can help reduce serum alkaline phosphatase. Regular monitoring every 6–12 months is recommended. Can a family member carry a PGAP2 mutation without showing symptoms?::Yes. PGAP2 mutations are inherited in an autosomal recessive pattern, meaning a carrier parent may not display symptoms but can pass the mutation to offspring. Carrier testing for at‑risk relatives is advised, especially if planning pregnancy.
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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