5751412549ENSG00000031081ENSMUSG00000022799Q2M1Z3A6X8Z5NM_020754NM_020260NP_065805NP_064656The Rho GTPase activating protein 31 is encoded in humans by the ARHGAP31 gene.

A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP.

This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs.

[5] ARHGAP31 mutations result in a loss of available active Cdc42 and consequently disrupt actin cytoskeletal structures, causing syndromic cutis aplasia and limb anomalies.

[6] This article incorporates text from the United States National Library of Medicine, which is in the public domain.