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The official name of this gene is “Rho GTPase activating protein 31.”
ARHGAP31 is the gene's official symbol. The ARHGAP31 gene is also known by other names, listed below.
The ARHGAP31 gene provides instructions for making a protein classified as a Rho GTPase activating protein (GAP). GAPs turn off (inactivate) proteins called GTPases, which play an important role in chemical signaling within cells. Often referred to as molecular switches, GTPases can be turned on and off. They are turned on (active) when they are attached (bound) to a molecule called GTP and are turned off when they are bound to another molecule called GDP. The ARHGAP31 protein inactivates GTPases known as Cdc42 and Rac1 by stimulating a reaction that turns the attached GTP into GDP. When active, Cdc42 and Rac1 transmit signals that are critical for various aspects of embryonic development. The ARHGAP31 protein appears to regulate these GTPases specifically during development of the limbs, skull, and heart.
The ARHGAP31 gene belongs to a family of genes called ARHGAP (Rho GTPase activating proteins).
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.
At least two mutations in the ARHGAP31 gene are known to cause Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. These mutations lead to production of an abnormally short ARHGAP31 protein that is more active than normal. The increased GAP activity leads to a reduction in Cdc42 and Rac1 signaling, which impairs proper development of the skin on the top of the head and the bones in the hands and feet.
Cytogenetic Location: 3q13.33
Molecular Location on chromosome 3: base pairs 119,294,288 to 119,419,475
The ARHGAP31 gene is located on the long (q) arm of chromosome 3 at position 13.33.
More precisely, the ARHGAP31 gene is located from base pair 119,294,288 to base pair 119,419,475 on chromosome 3.
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 ARHGAP31 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.
embryonic ; gene ; GTP ; hydrolysis ; molecule ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/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.