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fgd1

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Official Full Name
FYVE, RhoGEF and PH domain containing 1
Background
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.
Synonyms
FGD1; FYVE, RhoGEF and PH domain containing 1; faciogenital dysplasia (Aarskog Scott syndrome) , FGDY; FYVE, RhoGEF and PH domain-containing protein 1; ZFYVE3; rho/Rac GEF; faciogenital dysplasia 1 protein; zinc finger FYVE domain-containing protein 3; rh

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