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Reviewed August 2011
What is the official name of the RASA1 gene?
The official name of this gene is “RAS p21 protein activator (GTPase activating protein) 1.”
RASA1 is the gene's official symbol. The RASA1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the RASA1 gene?
The RASA1 gene provides instructions for making a protein called p120-RasGAP. This protein helps regulate the RAS/MAPK signaling pathway, which transmits signals from outside the cell to the cell's nucleus. The RAS/MAPK signaling pathway helps direct several important cell functions, including the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), and cell movement. The p120-RasGAP protein is a negative regulator of the RAS/MAPK signaling pathway, which means it is involved in turning off these signals when they are not needed.
The exact role of p120-RasGAP is not fully understood. However, it appears to be essential for the normal development of the vascular system, which is the complex network of arteries, veins, and capillaries that carry blood to and from the heart.
Does the RASA1 gene share characteristics with other genes?
The RASA1 gene belongs to a family of genes called SH2 domain containing (SH2 domain containing).
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? in the Handbook.
How are changes in the RASA1 gene related to health conditions?
Where is the RASA1 gene located?
Cytogenetic Location: 5q13.3
Molecular Location on chromosome 5: base pairs 86,564,069 to 86,687,742
The RASA1 gene is located on the long (q) arm of chromosome 5 at position 13.3.
More precisely, the RASA1 gene is located from base pair 86,564,069 to base pair 86,687,742 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about RASA1?
You and your healthcare professional may find the following resources about RASA1 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 RASA1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 RASA1?
arteries ; arteriovenous ; cancer ; capillaries ; carcinoma ; cell ; cell proliferation ; cM ; differentiation ; gene ; malformation ; nucleus ; proliferation ; protein ; RAS ; syndrome ; tumor ; vascular ; veins
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
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.