This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. [provided by RefSeq, Oct 2008]
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. Activates MAPK8.
Subcellular Location:
Cytoplasm > cytoskeleton. Cell projection > filopodium. Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers.
Tissue Specificity:
Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.
Similarity:
Contains 1 DH (DBL-homology) domain.
Contains 1 FYVE-type zinc finger.
Contains 2 PH domains.
SWISS:
Q96M96
Gene ID:
121512
Database links:
Entrez Gene: 121512 Human
Omim: 611104 Human
SwissProt: Q96M96 Human
Unigene: 117835 Human
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