ARHGAP31

ARHGAP31 is a gene that encodes a protein known as Rho GTPase activating protein 31. This protein is involved in the regulation of cellular processes such as cell division, gene expression, and cell movement. Mutations in the ARHGAP31 gene have been associated with Adams-Oliver syndrome, a rare congenital disorder characterized by defects in the development of the skin and the skeletal system.

Function[edit | edit source]

The ARHGAP31 gene provides instructions for making a protein that is involved in regulating the Rho family of GTPases. These proteins act like switches, controlling many cellular processes by cycling between an active, GTP-bound state and an inactive, GDP-bound state. The ARHGAP31 protein helps turn off (inactivate) these proteins when they are no longer needed, preventing them from sending signals at inappropriate times.

Clinical significance[edit | edit source]

Mutations in the ARHGAP31 gene have been identified in people with Adams-Oliver syndrome. This condition is characterized by scalp defects, abnormalities of the fingers and toes, and, in some cases, heart defects. The ARHGAP31 gene mutations that cause Adams-Oliver syndrome likely result in the production of a protein with reduced or absent function. This loss of function disrupts the normal regulation of Rho GTPases, leading to abnormalities in cell division and migration that affect the development of the skin, skeleton, and heart.