|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “RAB23, member RAS oncogene family.”
RAB23 is the gene's official symbol. The RAB23 gene is also known by other names, listed below.
The RAB23 gene provides instructions for making a protein that is involved in a process called vesicle trafficking, which moves proteins and other molecules within cells in sac-like structures called vesicles. A vesicle forms when the cell membrane folds around a substance outside the cell (such as a protein). The vesicle is drawn into the cell, pinched off from the cell membrane (a process called endocytosis), and attached to the Rab23 protein. Once inside the cell, the vesicle is guided by the Rab23 protein to its proper destination. Vesicle trafficking is important for the transport of materials that are needed to trigger signaling during development.
Through the transport of certain proteins, the Rab23 protein regulates a specific developmental pathway called the hedgehog signaling pathway that is critical in cell growth (proliferation), cell specialization, and the normal shaping (patterning) of many parts of the body during embryonic development.
The RAB23 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.
More than a dozen mutations in the RAB23 gene have been found to cause Carpenter syndrome, a condition characterized by irregular skull formation, finger and toe abnormalities, and many other features. One mutation that is frequently seen in individuals with Carpenter syndrome who are of northern European ancestry replaces the protein building block (amino acid) leucine with a premature stop signal at protein position 145 (written as Leu145Term or L145X). This mutation results in an abnormally short, unstable protein that is quickly broken down. Other RAB23 gene mutations that cause Carpenter syndrome reduce or eliminate function of the Rab23 protein. It is not clear how these mutations result in the specific features of Carpenter syndrome; however, it is likely that impaired transport of proteins involved in the hedgehog signaling pathway contributes to the development of this disorder.
Cytogenetic Location: 6p11
Molecular Location on chromosome 6: base pairs 57,186,992 to 57,222,314
The RAB23 gene is located on the short (p) arm of chromosome 6 at position 11.
More precisely, the RAB23 gene is located from base pair 57,186,992 to base pair 57,222,314 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about RAB23 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; cell ; cell membrane ; embryonic ; endocytosis ; gene ; GTP ; leucine ; mutation ; oncogene ; proliferation ; protein ; RAS ; RAS oncogene ; syndrome ; 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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.