Synthesized peptide derived from human FGD1 AA range: 508-558

This antibody detects endogenous levels of FGD1 at Human/Mouse

FGD1 FGDY ZFYVE3

FGD1

FYVE, RhoGEF and PH domain-containing protein 1 ;
Faciogenital dysplasia 1 protein ;
Rho/Rac guanine nucleotide exchange factor FGD1 ;
Rho/Rac GEF ;
Zinc finger FYVE domain-containing protein 3 ;

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],

Disease:Defects in FGD1 are a cause of non-syndromal X-linked mental retardation.,Disease:Defects in FGD1 are the cause of Aarskog-Scott syndrome (AAS) [MIM:305400]. This faciogenital dysplasia is a rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal, and urogenital anomalies.,Domain:The DH domain is involved in interaction with CCPG1.,Function:Activates CDC42, a member of the Ras-like family of Rho-and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape.,similarity:Contains 1 DH (DBL-homology) domain.,similarity:Contains 1 FYVE-type zinc finger.,similarity:Contains 2 PH domains.,subcellular location:Associated with membrane ruffles and lamellipodia.,subunit:Interacts with DBNL/ABP1 and CTTN. May interact with CCPG1 (By similarity). Binds CDC42.,tissue specificity:Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.,

Cytoplasm . Cell projection, lamellipodium . Cell projection, ruffle . Cytoplasm, cytoskeleton . Associated with membrane ruffles and lamellipodia. .

Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.

>>Regulation of actin cytoskeleton