This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of faciogenital dysplasia and X-linked mental retardation, syndromatic 16.[provided by RefSeq, Mar 2011].
Zou, Greenblatt, Shim, Kant, Zhai, Lotinun, Brady, Hu, Gygi, Baron, Davis, Jones, Glimcher: "MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice." in: The Journal of clinical investigation, Vol. 121, Issue 11, pp. 4383-92, (2011) (PubMed).