Gene Symbol | DOCK8 |
Entrez Gene ID | 81704 |
Full Name | dedicator of cytokinesis 8 |
Synonyms | HEL-205,MRD2,ZIR8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3) |