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FGD1 is 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.
Gene Name: | FYVE, RhoGEF and PH domain containing 1 |
Synonyms: | FGD1, AAS, FGDY, MRXS16, Rho/Rac GEF, ZFYVE3 |
Target Sequences: | NM_004463 NP_004454.2 P98174 |
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