Monkey Dedicator of Cytokinesis 3 ELISA Kit | DOCK3 elisa kit

Monkey Dedicator of Cytokinesis 3 ELISA Kit

Cat. Num. AAA52877

• Gene Names: DOCK8; MRD2; ZIR8; HEL-205
• Reactivity: Monkey
• Synonyms: Dedicator of Cytokinesis 3; Monkey Dedicator of Cytokinesis 3 ELISA Kit; DOCK3 elisa kit

• Reactivity: Monkey
• Sequence Length: 2031

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 302129691
• NCBI GeneID: 81704
• NCBI Accession #: NP_001180465.1
• NCBI GenBank Nucleotide #: NM_001193536.1
• UniProt Accession #: Q8NF50; Q3MV16; Q5JPJ1; Q8TEP1; Q8WUY2; Q9BYJ5; Q9H1Q2; A2A350; A2BDF2; A4FU78; B7ZLP0; E9PH09
• Molecular Weight: 238,529 Da
• NCBI Official Full Name: dedicator of cytokinesis protein 8 isoform 3
• NCBI Official Synonym Full Names: dedicator of cytokinesis 8
• NCBI Official Symbol: DOCK8
• NCBI Official Synonym Symbols: MRD2; ZIR8; HEL-205
• NCBI Protein Information: dedicator of cytokinesis protein 8; 1200017A24Rik; epididymis luminal protein 205
• UniProt Protein Name: Dedicator of cytokinesis protein 8
• Protein Family: Dedicator of cytokinesis protein
• UniProt Gene Name: DOCK8
• UniProt Entry Name: DOCK8_HUMAN

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: 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