基因名称(Gene Name)
FGD1 FGDY ZFYVE3
免疫原
Synthesized peptide derived from human FGD1 AA range: 508-558
特异性
This antibody detects endogenous levels of FGD1 at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.256% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
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)
背景
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],
功能
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
