catalog number :
MBS9321935
products type :
ELISA Kit
products full name :
Human DediCator of cytokinesis protein 8, DOCK8 ELISA Kit
products short name :
dedicator of cytokinesis 8
products name syn :
Human Dedicator of cytokinesis protein 8 (DOCK8) ELISA kit; RP11-165F24.7; FLJ00026; FLJ00152; FLJ00346; MRD2; ZIR8; 1200017A24Rik; dedicator of cytokinesis 8
other names :
dedicator of cytokinesis protein 8 isoform 2; Dedicator of cytokinesis protein 8; dedicator of cytokinesis protein 8; 1200017A24Rik; epididymis luminal protein 205; dedicator of cytokinesis 8
products gene name :
DOCK8
other gene names :
DOCK8; DOCK8; MRD2; ZIR8; HEL-205
uniprot entry name :
DOCK8_HUMAN
storage stability :
Store all reagents at 2-8 degree C
ncbi acc num :
NP_001177387.1
ncbi gb acc num :
NM_001190458.1
ncbi mol weight :
238,529 Da
ncbi pathways :
Factors Involved In Megakaryocyte Development And Platelet Production Pathway (187196); Hemostasis Pathway (106028)
ncbi summary :
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]
uniprot summary :
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: Motility/polarity/chemotaxis; GEFs, misc.; GEFs. 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