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NDRG1

NDRG1

Reviewed January 2010

What is the official name of the NDRG1 gene?

The official name of this gene is “N-myc downstream regulated 1.”

NDRG1 is the gene's official symbol. The NDRG1 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 NDRG1 gene?

The NDRG1 gene provides instructions for making a protein whose function is not well understood. The NDRG1 protein may play a role in stopping cell growth and prompting cells to mature and take on specialized functions (differentiate). It probably performs these roles by transmitting signals between the nucleus and other parts of the cell. The NDRG1 protein also interacts with other proteins that help regulate the distribution of fats (lipids) in the body.

The NDRG1 gene is active in cells throughout the body, but its activity is particularly high in specialized cells called Schwann cells. Schwann cells nourish and protect nerve cells, especially the cell extensions (axons) that transmit nerve impulses. Schwann cells also produce myelin, a fatty substance that covers axons and promotes the efficient transmission of nerve impulses. Scientists speculate that the NDRG1 protein is involved in Schwann cell differentiation, myelin maintenance, and the signaling necessary for the survival of nerve axons.

How are changes in the NDRG1 gene related to health conditions?

Charcot-Marie-Tooth disease - caused by mutations in the NDRG1 gene

Researchers have identified at least two NDRG1 gene mutations that cause a form of Charcot-Marie-Tooth disease known as type 4D. One mutation creates a premature stop signal in the instructions for making the NDRG1 protein, which results in an abnormally short protein. The other mutation leads to the production of a protein that is missing a critical segment. Both of these mutations probably result in a nonfunctional protein.

It is unclear how NDRG1 gene mutations lead to type 4D Charcot-Marie-Tooth disease. Schwann cells use large amounts of lipids and proteins to make myelin, and they rely on a sufficient supply of these substances. NDRG1 gene mutations may impair the NDRG1 protein's interactions with other proteins that help distribute lipids in the body. As a result, the supply of lipids to Schwann cells may be disrupted, affecting myelin production and altering the transmission of nerve impulses. NDRG1 gene mutations may also disturb signaling that is necessary for the survival of axons. Loss of myelin and problems with nerve impulse transmission are signs of type 4D Charcot-Marie-Tooth disease.

Where is the NDRG1 gene located?

Cytogenetic Location: 8q24.3

Molecular Location on chromosome 8: base pairs 133,237,170 to 133,297,303

The NDRG1 gene is located on the long (q) arm of chromosome 8 at position 24.3.

The NDRG1 gene is located on the long (q) arm of chromosome 8 at position 24.3.

More precisely, the NDRG1 gene is located from base pair 133,237,170 to base pair 133,297,303 on chromosome 8.

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

Where can I find additional information about NDRG1?

You and your healthcare professional may find the following resources about NDRG1 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 NDRG1 gene or gene products?

  • CAP43
  • CMT4D
  • differentiation-related gene 1 (nickel-specific induction protein)
  • DRG1
  • GC4
  • HMSNL
  • NDR1
  • NDRG1_HUMAN
  • NMSL
  • N-myc downstream regulated gene 1
  • protein regulated by oxygen 1
  • PROXY1
  • reducing agents and tunicamycin-responsive protein
  • RIT42
  • RTP
  • TARG1
  • TDD5

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 NDRG1?

axons ; cell ; differentiation ; gene ; mutation ; nucleus ; oxygen ; protein ; Schwann cells

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

See also Understanding Medical Terminology.

References (11 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: January 2010
Published: December 22, 2014