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PNPLA6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PNPLA6 gene

The PNPLA6 gene provides instructions for a protein that maintains the stability of cell membranes, particularly within the nervous system.

Normal Function

The PNPLA6 gene provides instructions for making a protein called neuropathy target esterase (NTE). The NTE protein is involved in the breakdown of certain fats (lipids). Specifically, NTE breaks down a lipid called lysophosphatidylcholine, which is one of several compounds found in the outer membranes surrounding cells. The correct levels of these compounds are critical to the stability of the cell membranes.

The NTE protein is found most abundantly in the nervous system. It plays an important role in maintaining the stability of the membranes surrounding nerve cells (neurons) and of these cells' specialized extensions, called axons, that transmit nerve impulses. NTE may also play a role in the release of hormones from the pituitary gland, a process that requires particular changes in the cell membrane and appears to involve the lipids found there.

Health Conditions Related to Genetic Changes

Boucher-Neuhäuser syndrome

More than a dozen mutations in the PNPLA6 gene have been found to cause Boucher-Neuhäuser syndrome, a disorder characterized by coordination and balance problems (ataxia), vision impairment, and delayed puberty. The mutations are thought to impair the function of the NTE protein. Researchers speculate that impairment of lysophosphatidylcholine metabolism alters the balance of compounds in the cell membrane, which may damage axons and impair the release of hormones involved in sexual development.

Gordon Holmes syndrome

At least six mutations in the PNPLA6 gene cause Gordon Holmes syndrome, a rare condition characterized by ataxia and reduced production of hormones that direct sexual development (hypogonadotropic hypogonadism), which leads to delayed or absent puberty or other reproductive problems. As in Boucher-Neuhäuser syndrome, the mutations impair the function of the NTE protein, disrupting the levels of lysophosphatidylcholine in cell membranes and damaging neurons in the brain.

Other disorders

Mutations in the PNPLA6 gene cause a continuous spectrum of neurological conditions called PNPLA6-related disorders. Conditions in this group include:

  • Boucher-Neuhäuser syndrome
  • Gordon Holmes syndrome
  • Oliver-McFarlane syndrome
  • Laurence-Moon syndrome
  • Spastic paraplegia type 39

PNPLA6-related disorders feature combinations of overlapping signs and symptoms, including ataxia, muscle stiffness (spasticity), abnormally fast (brisk) reflexes, reduced sensation in the extremities (peripheral neuropathy), intellectual disability, eye abnormalities, impaired vision, hair abnormalities, hypogonadotropic hypogonadism, and reduced function of the pituitary gland (hypopituitarism).

Other Names for This Gene

  • NTE
  • NTEMND
  • patatin like phospholipase domain containing 6

Frequently Asked Questions

Management is largely supportive: physical and occupational therapy to improve coordination, vestibular rehabilitation, and assistive devices for balance. Vision aids, low‑vision specialists, and regular ophthalmologic exams are essential. Hormone replacement therapy may address hypogonadism. Emerging research on gene‑replacement approaches is ongoing but not yet clinically available.
voiding exposure to organophosphate pesticides and certain industrial chemicals can reduce additional nerve damage. Adequate nutrition, especially omega‑3 fatty acids, and maintaining a regular exercise routine can support nerve health. Regular monitoring for new symptoms and early intervention can help mitigate progression.
The PNPLA6 gene encodes neuropathy target esterase (NTE), an enzyme that breaks down lysophosphatidylcholine, a lipid essential for nerve cell membrane stability. Mutations impair NTE, disrupting membrane integrity, damaging axons, and interfering with hormone release, which manifests as ataxia, vision loss, and delayed puberty seen in Boucher‑Neuhäuser syndrome.
Diagnosis combines clinical evaluation (ataxia, retinitis pigmentosa, hypogonadism) with imaging and hormone studies. Genetic confirmation is obtained via targeted sequencing of PNPLA6 or whole‑exome sequencing, which identifies pathogenic variants.
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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