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NTRK1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NTRK1 gene

The NTRK1 gene is essential for the development and survival of sensory neurons that transmit information about pain, temperature, and touch.

Normal Function

The NTRK1 gene provides instructions for making a protein that is essential for the development and survival of nerve cells (neurons), especially those that transmit information about sensations such as pain, temperature, and touch (sensory neurons). The NTRK1 protein is found on the surface of cells, particularly sensory neurons. It acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. This process is called phosphorylation.

The NTRK1 protein is turned on (activated) when another protein called nerve growth factor beta (NGFβ) attaches (binds) to it and signals the NTRK1 protein to phosphorylate itself (autophosphorylation). Then, the activated NTRK1 protein phosphorylates other proteins; this process is needed to transmit signals for cell growth and survival.

Health Conditions Related to Genetic Changes

Congenital insensitivity to pain with anhidrosis

Mutations in the NTRK1 gene cause congenital insensitivity to pain with anhidrosis (CIPA), a condition characterized by the inability to feel pain and decreased or absent sweating (anhidrosis). Many of the NTRK1 gene mutations lead to a protein that cannot be activated by phosphorylation, which means the mutated NTRK1 protein cannot transmit cell growth and survival signals to neurons. Without the proper signaling, neurons die by a process of self-destruction called apoptosis. Loss of sensory neurons leads to the inability to feel pain in people with CIPA. In addition, people with CIPA lose the nerves leading to their sweat glands, which causes the anhidrosis seen in affected individuals.

Cancers

Mutations in the NTRK1 gene are frequently found in people with a common type of thyroid cancer called papillary thyroid carcinoma. These mutations are acquired during a person's lifetime and are present only in certain cells (somatic mutations). The mutations involved in papillary thyroid carcinoma occur when rearrangements of genetic material combine part of the NTRK1 gene with another gene, such as TPM3, TPR, or TFG. All of these genetic rearrangements create mutated proteins called TRK oncoproteins. Unlike normal NTRK1 protein, TRK oncoproteins are always turned on, signaling cells to grow and divide continuously.

Other Names for This Gene

  • high affinity nerve growth factor receptor
  • MTC
  • neurotrophic tyrosine kinase, receptor, type 1
  • NTRK1_HUMAN
  • p140-TrkA
  • TRK
  • Trk-A
  • TRK1
  • TRK1-transforming tyrosine kinase protein
  • TRKA
  • tyrosine kinase receptor A

Frequently Asked Questions

CIPA is an autosomal recessive condition, meaning a person must inherit two mutated copies of the NTRK1 gene, one from each parent, to have the disorder. If both parents are carriers, there is a 25 percent chance with each pregnancy that the child will have CIPA, a 50 percent chance the child will be a carrier, and a 25 percent chance the child will not be affected. Genetic counseling is recommended for family planning.
Diagnosis is often clinical based on specific early signs, such as the infant not crying when injured or showing no reaction to painful stimuli like a needle prick. A key diagnostic clue is the absence of sweating in response to heat or fever, which can lead to dangerous overheating. Confirmation is achieved through genetic testing that identifies mutations in the NTRK1 gene.
The primary risks are accidental injury and hyperthermia. Because the child cannot feel pain, they may sustain severe burns, fractures, or tissue damage from repeated self-injury without realizing it. Parents must perform daily skin checks for wounds and maintain a strict, cool environment to prevent overheating, as the lack of sweating impairs the body's ability to regulate temperature.
No, CIPA specifically affects sensory neurons responsible for pain and temperature sensation, as well as sweat gland innervation. It does not affect cognitive development, intelligence, or other senses such as vision, hearing, or touch (light touch). Individuals with CIPA typically have normal intellectual abilities and can lead full lives with appropriate medical and safety support.
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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