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

GNPAT gene

The GNPAT gene provides instructions for making an enzyme essential for the production of plasmalogens, which are critical lipid molecules found in cell membranes and the nervous system.

Normal Function

The GNPAT gene provides instructions for making an enzyme known as glyceronephosphate O-acyltransferase (GNPAT) or dihydroxyacetonephosphate acyltransferase (DHAPAT). This enzyme is found in structures called peroxisomes, which are sac-like compartments within cells that contain enzymes needed to break down many different substances. Peroxisomes are also important for the production of fats (lipids) used in digestion and in the nervous system.

Within peroxisomes, the DHAPAT enzyme is responsible for the first step in the production of lipid molecules called plasmalogens. These molecules are found in cell membranes throughout the body and are abundant in myelin, the protective substance that covers nerve cells. While the exact functions of plasmalogens are still being studied, researchers suspect they may help protect cells from oxidative stress—a condition where unstable molecules called free radicals accumulate to levels that damage or kill cells. Plasmalogens may also play important roles in interactions between lipids and proteins, the transmission of chemical signals in cells, and the fusion of cell membranes.

Health Conditions Related to Genetic Changes

Rhizomelic chondrodysplasia punctata

At least five mutations in the GNPAT gene have been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). These mutations prevent cells from making any functional DHAPAT enzyme. A shortage of this enzyme disrupts peroxisome function and severely reduces the amount of plasmalogens within cells. It is currently unclear how these abnormalities lead to the characteristic features of RCDP2, such as shortened long bones and intellectual disability.

Other Names for This Gene

  • acyl-CoA:dihydroxyacetonephosphateacyltransferase
  • DAP-AT
  • DAPAT
  • DHAP-AT
  • DHAPAT
  • dihydroxyacetone phosphate acyltransferase
  • glycerone-phosphate O-acyltransferase
  • GNPAT_HUMAN

Frequently Asked Questions

Currently, no FDA‑approved therapy directly restores GNPAT activity. Experimental approaches include oral supplementation with alkylglycerols (a plasmalogen precursor) and dietary strategies rich in polyunsaturated fatty acids, but clinical benefit is limited and still under investigation. Management focuses on supportive care: physical therapy for joint contractures, vision and hearing support, and developmental interventions.
Diagnosis combines clinical findings (shortened long bones, facial dysmorphism, developmental delay) with biochemical testing that shows markedly reduced plasmalogen levels in blood. Definitive confirmation is achieved by sequencing the GNPAT gene to identify biallelic pathogenic variants, often via a peroxisomal disorder gene panel or whole‑exome sequencing.
Ultrasound may reveal symmetric shortening of the humerus and femur (rhizomelia), punctate calcifications in cartilage, and a small thoracic cage. In some cases, polyhydramnios and reduced fetal movements are noted. If these signs appear, targeted genetic testing (cell‑free DNA or amniocentesis) for GNPAT mutations can be offered.
Most heterozygous carriers are asymptomatic because one functional copy of GNPAT usually provides sufficient enzyme activity. However, rare reports suggest that carriers might have mildly reduced plasmalogen levels, which could theoretically influence susceptibility to oxidative stress, but no consistent clinical phenotype has been documented. Genetic counseling can clarify carrier status and reproductive 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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