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DOCK8 Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Defects in DOCK8 are the cause of hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES). It is a rare disorder of immunity characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. Defects in DOCK8 are the cause of mental retardation autosomal dominant type 2 (MRD2). Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. A chromosomal aberration disrupting DOCK8 has been found in a patient with mental retardation and ectodermal dysplasia. DOCK8 is disrupted in patients with mental retardation. A balanced translocation, t(X;9) (q13.1;p24). Belongs to the DOCK family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: GEF; GEF, misc.; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 9p24.3
Cellular Component: cytosol; membrane
Molecular Function: protein binding
Biological Process: blood coagulation
Disease: Hyper-ige Recurrent Infection Syndrome, Autosomal Recessive; Mental Retardation, Autosomal Dominant 2
Reference #:  Q8NF50 (UniProtKB)
Alt. Names/Synonyms: 1200017A24Rik; dedicator of cytokinesis 8; Dedicator of cytokinesis protein 8; DOCK8; FLJ00026; FLJ00152; FLJ00346; MRD2; ZIR8
Gene Symbols: DOCK8
Molecular weight: 238,529 Da
Basal Isoelectric point: 6.43  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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