Human dedicator of cytokinesis 8 ELISA Kit | DOCK8 elisa kit
Human DediCator of cytokinesis protein 8, DOCK8 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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 Description
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
Research Articles on DOCK8
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Product Notes
The Human DOCK8 dock8 (Catalog #AAA9321935) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9321935 ELISA Kit recognizes Human DOCK8. It is sometimes possible for the material contained within the vial of "dedicator of cytokinesis 8, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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