Reviewed April 2007
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?
Certain substances, such as proteins and fats, are moved around within cells by small saclike structures called transport vesicles. The RAB7A gene provides instructions for making a protein that helps regulate the traffic patterns of these vesicles. This protein is part of the RAB protein family. Each member of the RAB family appears to play a role in moving substances to specific compartments within the cell. The RAB7A protein regulates transport from the cell surface to cell compartments called lysosomes. Lysosomes are filled with enzymes that break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components. The RAB7A protein is essential for the maintenance of functional lysosomes.
How are changes in the RAB7A gene related to health conditions?
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Charcot-Marie-Tooth disease - caused by mutations in the RAB7A gene
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Researchers have identified at least four RAB7A mutations that cause a form of Charcot-Marie-Tooth disease known as type 2B. These mutations replace one of the building blocks (amino acids) used to make the RAB7A protein with an incorrect amino acid. These changes probably alter the structure of the RAB7A protein and impair its function. Research studies indicate that lysosomes break up and disperse if the RAB7A protein is malfunctioning. Without lysosomes, cells cannot break down toxic substances or recycle cell components. It remains unclear, however, how the altered RAB7A protein leads to the signs and symptoms of type 2B Charcot-Marie-Tooth disease.
Where is the RAB7A gene located?
Cytogenetic Location: 3q21.3
Molecular Location on chromosome 3: base pairs 129,927,668 to 130,016,330
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 129,927,668 to base pair 130,016,330 on chromosome 3.
See How do geneticists indicate the location of a gene? 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.
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the RAB7A gene or gene products?
- PRO2706
- PSN
- RAB7
- RAB7_HUMAN
- Ras-associated protein RAB7
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 RAB7A?
acids ;
amino acid ;
bacteria ;
cell ;
enzyme ;
gene ;
lysosome ;
mutation ;
oncogene ;
protein ;
RAS ;
RAS oncogene ;
sign ;
symptom ;
toxic ;
transport vesicles ;
vesicle
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.