DOCK8 Human Recombinant Protein

This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]

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.

Protein type: GEFs; GEFs, misc.; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 9p24.3

Cellular Component: membrane; leading edge; cytosol

Molecular Function: protein binding; guanyl-nucleotide exchange factor activity

Biological Process: formation of immunological synapse; small GTPase mediated signal transduction; blood coagulation; positive regulation of GTPase activity

Disease: Mental Retardation, Autosomal Dominant 2; Hyper-ige Recurrent Infection Syndrome, Autosomal Recessive