Aliases for DOCK8 Gene
External Ids for DOCK8 Gene
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]
GeneCards Summary for DOCK8 Gene
DOCK8 (Dedicator Of Cytokinesis 8) is a Protein Coding gene. Diseases associated with DOCK8 include combined immunodeficiency due to dock8 deficiency and hyper-ige recurrent infection syndrome, autosomal recessive. Among its related pathways are Hemostasis and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK6.
UniProtKB/Swiss-Prot for DOCK8 Gene
Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP (By similarity).