DefinitionThis section has been translated automatically.
DEF6 or IBP is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]) [provided by OMIM, Mar 2008].
DEF6 (DEF6 guanine nucleotide exchange factor) is a protein-coding gene localized to chromosome 6p21.31.
Diseases associated with DEF6 include.
- Immunodeficiency 87 and autoimmunity (OMIM: 619573).
General informationThis section has been translated automatically.
Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) plays a role in the activation of the Rho GTPases RAC1, RhoA, and CDC42. May regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 cell (T helper cell) development and/or activation, possibly by affecting ZAP70 signaling.
LiteratureThis section has been translated automatically.
- Fournier B et al (2021) DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity. J Allergy Clin Immun 147: 740-743.
- Serwas NK et al (2019) Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis. Nature Commun 10: 3106.
