DOCK11
Description
The DOCK11 (dedicator of cytokinesis 11) is a protein-coding gene located on chromosome X.
DOCK11 acts as a guanine nucleotide exchange factor (GEF) that activates CDC42 by replacing bound GDP with free GTP. This activation is essential for marginal zone (MZ) B-cell development, influencing early bone marrow B-cell development, MZ B-cell formation, MZ B-cell count, and the morphology of marginal metallophilic macrophages. DOCK11 also facilitates filopodia formation through the activation of CDC42.
DOCK11 is also known as ACG, ADMIDX, ZIZ2, bB128O4.1.
Associated Diseases
- autoinflammatory disease, multisystem, with immune dysregulation, X-linked
- ovarian cancer
- neuronal ceroid lipofuscinosis 1
- neutropenia-monocytopenia-deafness syndrome
- neutropenia, severe congenital, 2, autosomal dominant
- focal segmental glomerulosclerosis 7
- familial vesicoureteral reflux
- congenital anomalies of kidney and urinary tract 1
- type 2 diabetes mellitus