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)
实测条带： 105kD
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 in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.,
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)
实测条带： 105kD
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 in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.,
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