Q8NF50

DOCK 8 (dedicator of cytokinesis 8) is a 2,099 amino acid protein that contains one DHR-2 (CZH-2) domain and one DHR-1 (CZH-1) domain. One of several members of the DOCK180 family of cytokinesis-regulating proteins, DOCK 8 functions as a guanine nucleotide exchange factor (GEF) that may play a role in protein activation and is thought to influence Actin organization. Defects in the gene encoding DOCK 8 are associated with the pathogenesis of autosomal dominant mental retardation (MRD2), possibly due to errors in Actin-based cytoskeletal structure. Mutations in this gene also result in the autosomal recessive form of the hyper-IgE syndrome, a rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. Multiple isoforms of DOCK 8 exist due to alternative splicing events. The gene encoding DOCK 8 maps to human chromosome 9, which houses over 900 genes and comprises nearly 4% of the human genome.