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

GAN gene

The GAN gene provides instructions for making gigaxonin, a protein that helps maintain the structural integrity of nerve cells by breaking down unneeded proteins.

Normal Function

The GAN gene provides instructions for making a protein called gigaxonin. Gigaxonin is part of the ubiquitin-proteasome system, a multi-step process that identifies and removes excess or damaged proteins or organelles within cells. Gigaxonin belongs to a group of enzymes called E3 ubiquitin ligases (specifically Cul3-E3 ligases) that tag unneeded proteins with ubiquitin, marking them for destruction by a complex called a proteasome.

Gigaxonin helps break down protein structures called intermediate filaments, which provide support and strength to cells. In nerve cells (neurons), gigaxonin is thought to help break down specialized intermediate filaments called neurofilaments. Neurofilaments comprise the structural framework that establishes the size and shape of axons, which are essential for the transmission of nerve impulses.

Health Conditions Related to Genetic Changes

Giant axonal neuropathy

At least 47 mutations in the GAN gene have been identified in people with giant axonal neuropathy, an inherited disorder that causes gradually worsening loss of movement and sensation. The condition is characterized by abnormally large (giant) and deteriorating axons.

GAN gene mutations result in an unstable gigaxonin protein that breaks down easily, leading to a significant reduction of the protein in cells. In neurons, this reduction causes an accumulation of neurofilaments that should have been destroyed by the ubiquitin-proteasome system. These neurofilaments become densely packed in the giant axons, particularly in peripheral nerves that carry signals between the central nervous system and other areas of the body. These abnormal axons do not transmit signals properly and eventually deteriorate, causing severe neurological problems.

Other Names for This Gene

  • GAN1
  • GAN_HUMAN
  • giant axonal neuropathy (gigaxonin)
  • KLHL16

Frequently Asked Questions

No cure exists yet, but multidisciplinary care can improve quality of life. Physical therapy helps maintain mobility, occupational therapy assists with daily tasks, and speech therapy can address swallowing or communication issues. Pain and spasticity may be managed with medications such as gabapentin or baclofen. Assistive devices (canes, braces, wheelchairs) and respiratory support as needed are also part of comprehensive care.
It is inherited in an autosomal recessive pattern, meaning both parents must carry one defective copy of the gene. If both parents are carriers, there is a 25 % chance with each pregnancy that the child will have the disease, a 50 % chance of being a carrier, and a 25 % chance of being unaffected. Carrier testing for family members can clarify risk.
Early signs often include gradual difficulty walking, frequent falls, muscle weakness that starts in the legs and progresses upward, loss of sensation in the feet, and sometimes speech or swallowing difficulties. If you notice a combination of progressive motor weakness and sensory loss, especially if it began in childhood or adolescence, seek evaluation for giant axonal neuropathy.
Confirmation requires a DNA test that sequences the GAN gene. A blood sample is taken, and next‑generation sequencing or targeted gene panels are used to identify pathogenic variants. In some cases, a whole‑exome or whole‑genome approach is employed if initial panels are negative. The results are interpreted by a clinical geneticist.
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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