DOCK6
Domain
The DOCKER domain may mediate some GEF activity.
Function
Acts as a guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity).
Involvement in disease
Adams-Oliver syndrome 2
AOS2
A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the DOCK family.
Tissue Specificity
Widely expressed. Expressed at low level in spleen, cerebellum, hippocampus and in substantia nigra.
Cellular localization
- Cytoplasm
- Cytoplasm
- Perinuclear region
- Mainly located near the cell surface.
Alternative names
KIAA1395, DOCK6, Dedicator of cytokinesis protein 6