This gene encodes a member of the DOCK36 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]
Function:
Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP.
DISEASE:
Defects in DOCK8 are the cause of hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES) [MIM:243700]. 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.
Similarity:
Belongs to the DOCK family.
Contains 1 DHR-1 (CZH-1) domain.
Contains 1 DHR-2 (CZH-2) domain.
SWISS:
Q8NF50
Gene ID:
81704
Database links:
Entrez Gene: 81704 Human
Omim: 611432 Human
SwissProt: Q8NF50 Human
Unigene: 132599 Human
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