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.
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 134,249,413 to 134,309,546
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 134,249,413 to base pair 134,309,546 on chromosome 8.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((NDRG1%5BTIAB%5D)%20OR%20(N-myc%20downstream%20regulated%20gene%201%5BTIAB%5D))%20OR%20((CAP43%5BTIAB%5D)%20OR%20(DRG1%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/605262)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_NDRG1.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/10397)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=10397)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=7679)
- Inherited Peripheral Neuropathies Mutation Database (http://www.molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?Context=7)
What other names do people use for the NDRG1 gene or gene products?
- differentiation-related gene 1 (nickel-specific induction protein)
- N-myc downstream regulated gene 1
- protein regulated by oxygen 1
- reducing agents and tunicamycin-responsive protein
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding NDRG1?
You may find definitions for these and many other terms in the Genetics Home Reference
- Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C. The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. Clin Genet. 2007 Apr;71(4):343-9. (http://www.ncbi.nlm.nih.gov/pubmed/17470135?dopt=Abstract)
- Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):75-86. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16775368?dopt=Abstract)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/10397)
- Gene Review: Charcot-Marie-Tooth Neuropathy Type 4 (http://www.ncbi.nlm.nih.gov/books/NBK1468/)
- Hirata K, Masuda K, Morikawa W, He JW, Kuraoka A, Kuwano M, Kawabuchi M. N-myc downstream-regulated gene 1 expression in injured sciatic nerves. Glia. 2004 Sep;47(4):325-34. (http://www.ncbi.nlm.nih.gov/pubmed/15293230?dopt=Abstract)
- Hunter M, Angelicheva D, Tournev I, Ingley E, Chan DC, Watts GF, Kremensky I, Kalaydjieva L. NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24. Biochem Biophys Res Commun. 2005 Jul 15;332(4):982-92. (http://www.ncbi.nlm.nih.gov/pubmed/15922294?dopt=Abstract)
- Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmüller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L. Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. Hum Mutat. 2003 Aug;22(2):129-35. (http://www.ncbi.nlm.nih.gov/pubmed/12872253?dopt=Abstract)
- Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A. Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance. Clin Neuropathol. 2008 Jan-Feb;27(1):1-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18257469?dopt=Abstract)
- Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet. 2000 Jul;67(1):47-58. Epub 2000 May 30. (http://www.ncbi.nlm.nih.gov/pubmed/10831399?dopt=Abstract)
- Okuda T, Higashi Y, Kokame K, Tanaka C, Kondoh H, Miyata T. Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves. Mol Cell Biol. 2004 May;24(9):3949-56. (http://www.ncbi.nlm.nih.gov/pubmed/15082788?dopt=Abstract)
- Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14685682?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.