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Genes in the RAB family provide instructions for making proteins that are involved in a process called vesicle trafficking, which moves materials within cells in sac-like structures called vesicles. Some vesicles are formed when the cell membrane folds around a substance outside the cell. The vesicle is drawn into the cell and is pinched off from the cell membrane. This method of bringing substances into cells is called endocytosis.
Vesicles may also be formed from the membranes of other structures within the cell, such as the endoplasmic reticulum or the Golgi apparatus. Vesicles transport many types of molecules from the interior of the cell to its surface, where they may attach and interact with other substances, or be secreted by the cell.
RAB proteins are GTPases, which means they convert a molecule called GTP into another molecule called GDP. The RAB protein acts like a switch, and it is turned on and off by GTP and GDP molecules. The protein must be turned on (activated) by attaching (binding) to GTP, and it is turned off (inactivated) when it converts GTP to GDP. Only the active protein can bind to other proteins called Rab effectors, which help move vesicles to their proper destination. This switching function helps regulate vesicle trafficking in the nervous system and other tissues.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of these members of the RAB gene family: RAB7A, RAB23, and RAB27A.
Genetics Home Reference includes these conditions related to genes in the RAB gene family:
You may find the following resources about the RAB gene family helpful.
cell ; cell membrane ; endocytosis ; endoplasmic reticulum ; Golgi apparatus ; GTP ; molecule ; nervous system ; oncogene ; protein ; RAS ; RAS oncogene ; vesicle
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
These sources were used to develop the Genetics Home Reference summary for the RAB gene family.
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.