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

NGF gene

The NGF gene provides instructions for producing nerve growth factor beta, a protein essential for the development and survival of sensory neurons.

Normal Function

The NGF gene provides instructions for making a protein called nerve growth factor beta (NGFβ). This protein is important in the development and survival of nerve cells (neurons), especially those that transmit pain, temperature, and touch sensations (sensory neurons).

The NGFβ protein functions by attaching (binding) to its receptors, which initiates signaling pathways inside the cell. The NGFβ protein can bind to two different receptors, the NTRK1 receptor or the p75NTR receptor. Both receptors are found on the surface of sensory neurons and other types of neurons.

  • NTRK1 receptor binding: Signals these neurons to grow, mature, and take on specialized functions (differentiate). This binding also blocks signals that initiate the process of self-destruction (apoptosis). Additionally, NGFβ signaling through NTRK1 plays a role in pain sensation.
  • p75NTR receptor binding: While less clear, studies suggest this signaling can help sensory neurons grow and differentiate, but can also trigger apoptosis.

Health Conditions Related to Genetic Changes

Hereditary sensory and autonomic neuropathy type V

At least one mutation in the NGF gene has been reported to cause hereditary sensory and autonomic neuropathy type V (HSAN5), a condition characterized by the inability to feel pain and sense hot and cold.

  • Mutation Details: This mutation changes a single protein building block (amino acid) in the NGFβ protein, where arginine is replaced with tryptophan at position 100 (Arg100Trp or R100W).
  • Mechanism: Studies show that the mutated NGFβ protein cannot bind to the p75NTR receptor and alters signaling through the NTRK1 receptor. People with HSAN5 have a reduced number of sensory neurons.
  • Clinical Impact: Although the NGFβ protein is important in many types of neurons, only sensory neurons appear to be affected in people with HSAN5. The exact mechanism leading to the inability to feel pain and temperature remains unclear.

Other Names for This Gene

  • beta-nerve growth factor
  • beta-nerve growth factor precursor
  • Beta-NGF
  • HSAN5
  • nerve growth factor (beta polypeptide)
  • nerve growth factor, beta subunit
  • NGF_HUMAN
  • NGFB

Frequently Asked Questions

Individuals with HSAN5 cannot feel pain, temperature (hot/cold), or touch, which poses significant risks. The primary dangers include unnoticed injuries like burns, cuts, fractures, or infections, which can lead to severe tissue damage, chronic wounds, and even limb loss if not carefully monitored. Daily challenges involve constant vigilance to prevent injury, such as checking water temperature, wearing protective footwear, and regularly inspecting the body for wounds or signs of infection. Autonomic issues can also affect blood pressure regulation and sweating.
Hereditary sensory and autonomic neuropathy type V (HSAN5) caused by an NGF gene mutation is inherited in an autosomal recessive pattern. This means that a child must inherit two copies of the mutated NGF gene, one from each parent, to develop the condition. If you have one mutated copy, you are a carrier and typically do not show symptoms. If both parents are carriers of an NGF mutation, there is a 25% chance with each pregnancy that their child will inherit two altered copies and develop HSAN5, a 50% chance the child will be a carrier, and a 25% chance the child will not inherit any altered copies.
Currently, there is no cure for HSAN5. Treatment focuses on managing symptoms and preventing complications arising from the lack of pain sensation. This includes meticulous wound care, regular inspections for injuries, protective measures like appropriate footwear and clothing, and education for patients and caregivers on injury prevention. Physical therapy can help maintain joint mobility, and occupational therapy can assist with adapting daily activities to minimize risks. Regular medical check-ups are essential to monitor for complications.
Diagnosis of HSAN5 typically involves a clinical evaluation of symptoms like insensitivity to pain and temperature, often presenting from infancy. Nerve conduction studies and electromyography may show evidence of sensory nerve dysfunction. Confirmation of HSAN5 caused by an NGF gene mutation, such as the Arg100Trp variant, is made through genetic testing. This test analyzes the NGF gene to identify specific mutations linked to the condition.
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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