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Rabbit Anti-FGD1/FITC Conjugated antibody
background:
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.
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.
Subcellular Location:
Cytoplasm. Cell projection > lamellipodium. Cell projection > ruffle. Cytoplasm > cytoskeleton. Associated with membrane ruffles and lamellipodia.
Tissue Specificity:
Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.
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.
Note=Defects in FGD1 are found in a pateint with non-syndromal X-linked mental retardation.
Similarity:
Contains 1 DH (DBL-homology) domain.
Contains 1 FYVE-type zinc finger.
Contains 2 PH domains.
Database links:
Entrez Gene: 2245 Human
Omim: 305400 Human
SwissProt: P98174 Human
Unigene: 631767 Human
Unigene: 709201 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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