Reviewed April 2007
What is the official name of the NDRG1 gene?
The official name of this gene is “N-myc downstream regulated gene 1.”
NDRG1 is the gene's official symbol. The NDRG1 gene is also known by other names, listed below.
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 arresting cell growth and prompting cells to mature and assume specialized functions (differentiate). It probably performs these roles by shuttling 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?
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Charcot-Marie-Tooth disease - caused by mutations in the NDRG1 gene
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Researchers have identified two NDRG1 mutations that cause a form of Charcot-Marie-Tooth disease known as type 4D. Both mutations alter the structure of the NDRG1 protein by producing an abnormally small protein or a protein that is missing a critical segment. The altered structure probably causes a loss of the protein's function.
It is unclear how NDRG1 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 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 mutations may also disturb signaling that is necessary for the survival of axons. Loss of myelin and problems with nerve transmission are signs of type 4D Charcot-Marie-Tooth disease.
Where is the NDRG1 gene located?
Cytogenetic Location: 8q24
Molecular Location on chromosome 8: base pairs 134,318,595 to 134,378,679
The NDRG1 gene is located on the long (q) arm of chromosome 8 at position 24.
More precisely, the NDRG1 gene is located from base pair 134,318,595 to base pair 134,378,679 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.
- Educational resources - Information pages
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
- OMIM
- Genetic disorder catalog
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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
- 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 ;
lipid ;
mutation ;
nerve cell ;
nucleus ;
oxygen ;
protein ;
Schwann cells ;
sign
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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.