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.
Other Names
AOS1; Cdc42 GTPase-activating protein; CDGAP; RHG31_HUMAN; rho GTPase-activating protein 31
Related Genetics Topics
Identifiers
- NCBI Gene: 57514
- OMIM: 610911
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
