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Genetics Home Reference: your guide to understanding genetic conditions
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RAB7A

Reviewed January 2010

What is the official name of the RAB7A gene?

The official name of this gene is “RAB7A, member RAS oncogene family.”

RAB7A is the gene's official symbol. The RAB7A gene is also known by other names, listed below.

What is the normal function of the RAB7A gene?

The RAB7A gene provides instructions for making a protein that is involved in endocytosis, a process that brings substances into the cell. During endocytosis, the cell membrane folds around a substance outside the cell (such as a protein) to form a sac-like structure called a vesicle. The vesicle is drawn into the cell and is pinched off from the cell membrane. The RAB7A protein plays a role in vesicle trafficking, which is the movement of these vesicles within the cell.

Does the RAB7A gene share characteristics with other genes?

The RAB7A gene belongs to a family of genes called RAB (RAB, member RAS oncogene family).

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the RAB7A gene related to health conditions?

Charcot-Marie-Tooth disease - caused by mutations in the RAB7A gene

Researchers have identified at least four RAB7A gene mutations that cause a form of Charcot-Marie-Tooth disease known as type 2B. This form of the disorder is characterized by a severe reduction of sensation, especially in the limbs. The RAB7A gene mutations identified in individuals with this disorder change single protein building blocks (amino acids) used to make the RAB7A protein. These changes probably alter the structure of the RAB7A protein and impair its function.

It is not clear how RAB7A gene mutations cause the signs and symptoms of Charcot-Marie-Tooth disease. Researchers suggest that the altered RAB7A protein may affect endocytosis and transport of neurotransmitters, which are chemical messengers that carry signals between nerve cells (neurons). The specialized extensions of neurons (axons) that transmit nerve impulses throughout the nervous system can be very long, especially in the peripheral nervous system. The peripheral nervous system consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. The extremely long axons of the peripheral nervous system may be particularly sensitive to impaired transport of neurotransmitters. Disrupted neurotransmitter signaling may result in the weakness and sensory problems characteristic of Charcot-Marie-Tooth disease.

Where is the RAB7A gene located?

Cytogenetic Location: 3q21.3

Molecular Location on chromosome 3: base pairs 128,726,135 to 128,814,797

The RAB7A gene is located on the long (q) arm of chromosome 3 at position 21.3.

The RAB7A gene is located on the long (q) arm of chromosome 3 at position 21.3.

More precisely, the RAB7A gene is located from base pair 128,726,135 to base pair 128,814,797 on chromosome 3.

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 RAB7A?

You and your healthcare professional may find the following resources about RAB7A 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 RAB7A gene or gene products?

  • PRO2706
  • PSN
  • RAB7
  • RAB7_HUMAN
  • Ras-associated protein RAB7

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 RAB7A?

acids ; axons ; cell ; cell membrane ; endocytosis ; gene ; nervous system ; neurotransmitters ; oncogene ; peripheral ; peripheral nervous system ; protein ; RAS ; RAS oncogene ; sensory cells ; vesicle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bucci C, Thomsen P, Nicoziani P, McCarthy J, van Deurs B. Rab7: a key to lysosome biogenesis. Mol Biol Cell. 2000 Feb;11(2):467-80. (http://www.ncbi.nlm.nih.gov/pubmed/10679007?dopt=Abstract)
  • De Luca A, Progida C, Spinosa MR, Alifano P, Bucci C. Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B. Biochem Biophys Res Commun. 2008 Jul 25;372(2):283-7. doi: 10.1016/j.bbrc.2008.05.060. Epub 2008 May 21. (http://www.ncbi.nlm.nih.gov/pubmed/18501189?dopt=Abstract)
  • Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann Neurol. 2004 Oct;56(4):586-90. (http://www.ncbi.nlm.nih.gov/pubmed/15455439?dopt=Abstract)
  • Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F. Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. Neurology. 2006 Oct 24;67(8):1476-8. (http://www.ncbi.nlm.nih.gov/pubmed/17060578?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7879)
  • OMIM: RAS-ASSOCIATED PROTEIN RAB7 (http://omim.org/entry/602298)
  • Saxena S, Bucci C, Weis J, Kruttgen A. The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA. J Neurosci. 2005 Nov 23;25(47):10930-40. (http://www.ncbi.nlm.nih.gov/pubmed/16306406?dopt=Abstract)
  • Spinosa MR, Progida C, De Luca A, Colucci AM, Alifano P, Bucci C. Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease. J Neurosci. 2008 Feb 13;28(7):1640-8. doi: 10.1523/JNEUROSCI.3677-07.2008. (http://www.ncbi.nlm.nih.gov/pubmed/18272684?dopt=Abstract)
  • Vanlandingham PA, Ceresa BP. Rab7 regulates late endocytic trafficking downstream of multivesicular body biogenesis and cargo sequestration. J Biol Chem. 2009 May 1;284(18):12110-24. doi: 10.1074/jbc.M809277200. Epub 2009 Mar 5. (http://www.ncbi.nlm.nih.gov/pubmed/19265192?dopt=Abstract)
  • Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet. 2003 Mar;72(3):722-7. Epub 2003 Jan 21. (http://www.ncbi.nlm.nih.gov/pubmed/12545426?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2010
Published: December 22, 2014