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NTN1 gene
URL of this page: https://medlineplus.gov/genetics/gene/ntn1/

NTN1 gene

netrin 1

Normal Function

The NTN1 gene provides instructions for making a protein called netrin-1, which is involved in the development of the nervous system. This protein attaches (binds) to a protein called netrin-1 receptor, and these two proteins fit together like a lock and key. The binding of netrin-1 to its receptor helps direct the growth of specialized nerve cell extensions called axons. Axons transmit nerve impulses that can signal muscle movement.

When the brain sends a signal to trigger muscle movement, the signal usually travels from one half of the brain to the opposite side of the body. Binding netrin-1 to its receptor allows axons to develop this signaling pathway.

Health Conditions Related to Genetic Changes

Congenital mirror movement disorder

NTN1 gene variants (also called mutations) have been identified in people with congenital mirror movement disorder, a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side of the body. These variants change single protein building blocks (amino acids) in the netrin-1 protein or cause cells to produce an abnormally short version of the protein. Without functional netrin-1 proteins, the growth of axons during nervous system development is not properly directed. As a result, movement signals that originate in one half of the brain are transmitted to both sides of the body, leading to mirror movements.

More About This Health Condition

Other Names for This Gene

  • MRMV4
  • NET1
  • NTN1L

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of NTN1 From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • NETRIN 1; NTN1

Gene and Variant Databases

  • NCBI Gene From the National Institutes of Health
  • ClinVar From the National Institutes of Health

References

  • Boyer NP, Gupton SL. Revisiting Netrin-1: One Who Guides (Axons). Front Cell Neurosci. 2018 Jul 31;12:221. doi: 10.3389/fncel.2018.00221. eCollection 2018. Citation on PubMed
  • Dun XP, Parkinson DB. Role of Netrin-1 Signaling in Nerve Regeneration. Int J Mol Sci. 2017 Feb 24;18(3):491. doi: 10.3390/ijms18030491. Citation on PubMed
  • Meneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guerois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chedotal A, Dusart I, Roze E, Markie D. Mutations in the netrin-1 gene cause congenital mirror movements. J Clin Invest. 2017 Nov 1;127(11):3923-3936. doi: 10.1172/JCI95442. Epub 2017 Sep 25. Citation on PubMed
DNA helix

Genomic Location

The NTN1 gene is found on chromosome 17.

Related Health Topics

  • Genes and Gene Therapy
  • Genetic Disorders

MEDICAL ENCYCLOPEDIA

  • Genes
  • Genetics

Understanding Genetics

  • What is DNA?
  • What is a gene?
  • What is a gene variant and how do variants occur?

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