DEF6


Description

The DEF6 (DEF6 guanine nucleotide exchange factor) is a protein-coding gene located on chromosome 6.

DEF6, or Differentially expressed in FDCP 6 homolog, is a protein encoded by the DEF6 gene in humans.

DEF6 is a phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) that activates Rho GTPases RAC1, RhoA and CDC42 (PubMed:12651066, PubMed:15023524). DEF6 can regulate cell morphology in cooperation with activated RAC1 (By similarity). It is involved in immune homeostasis by ensuring proper trafficking and availability of the T-cell regulator CTLA-4 at the T-cell surface (PubMed:31308374). DEF6 plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity). {ECO:0000250|UniProtKB:Q8C2K1, ECO:0000269|PubMed:12651066, ECO:0000269|PubMed:15023524, ECO:0000269|PubMed:31308374}

DEF6 is also known as IBP, IMD87, SLAT, SWAP70L.

Associated Diseases


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