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NTRK1

NTRK1

Reviewed May 2011

What is the official name of the NTRK1 gene?

The official name of this gene is “neurotrophic tyrosine kinase, receptor, type 1.”

NTRK1 is the gene's official symbol. The NTRK1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the NTRK1 gene?

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.

Does the NTRK1 gene share characteristics with other genes?

The NTRK1 gene belongs to a family of genes called immunoglobulin superfamily, immunoglobulin-like domain containing (immunoglobulin superfamily, immunoglobulin-like domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the NTRK1 gene related to health conditions?

congenital insensitivity to pain with anhidrosis - caused by mutations in the NTRK1 gene

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 mutations in the NTRK1 gene are known to cause the condition. 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 - increased risk from variations of the NTRK1 gene

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. Such mutations are called somatic mutations. The mutations involved in papillary thyroid carcinoma occur when rearrangements of genetic material combine part of the NTRK1 gene with another gene. At least three other genes are known to be involved in these rearrangements: the TPM3 gene, the TPR gene, and the TFG gene. All of these genetic rearrangements create mutated proteins called TRK oncoproteins. Unlike normal NTRK1 protein, TRK oncoproteins do not have to be activated by binding to the NGFβ protein; they are always turned on. Constant activation of the protein signals for the cells to grow and divide continuously, which can lead to papillary thyroid carcinoma.

Where is the NTRK1 gene located?

Cytogenetic Location: 1q21-q22

Molecular Location on chromosome 1: base pairs 156,815,749 to 156,881,849

The NTRK1 gene is located on the long (q) arm of chromosome 1 between positions 21 and 22.

The NTRK1 gene is located on the long (q) arm of chromosome 1 between positions 21 and 22.

More precisely, the NTRK1 gene is located from base pair 156,815,749 to base pair 156,881,849 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about NTRK1?

You and your healthcare professional may find the following resources about NTRK1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the NTRK1 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding NTRK1?

absent sweating ; anhidrosis ; apoptosis ; cancer ; carcinoma ; cell ; congenital ; enzyme ; gene ; growth factor ; kinase ; oxygen ; papillary ; phosphate ; phosphorus ; phosphorylation ; protein ; receptor ; thyroid ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (9 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: May 2011
Published: July 7, 2014