DOCK11
Domain
The DOCKER domain is necessary for the GEF activity. The DOCKER domain mediates interaction with activated CDC42 in conjunction with residues 66-126.
Function
Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP (PubMed:37342957). Required for marginal zone (MZ) B-cell development, is associated with early bone marrow B-cell development, MZ B-cell formation, MZ B-cell number and marginal metallophilic macrophages morphology (By similarity). Facilitates filopodia formation through the activation of CDC42 (PubMed:37342957).
Involvement in disease
Autoinflammatory disease, multisystem, with immune dysregulation, X-linked
ADMIDX
An X-linked recessive disorder apparent in infancy or early childhood, and characterized by immune dysregulation, variable cytopenias, and systemic or organ-specific autoinflammatory manifestations. Clinical features include systemic lupus erythematosus, panniculitis, inflammatory bowel disease, pulmonary disease, or arthritis associated with recurrent fever, leukocytosis, lymphoproliferation, and hepatosplenomegaly in the absence of an infectious agent. Death in childhood has been reported.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the DOCK family.
Alternative names
ZIZ2, DOCK11, Dedicator of cytokinesis protein 11, Activated Cdc42-associated guanine nucleotide exchange factor, Zizimin-2, ACG