DISEASES

Disease-gene associations mined from literature

Literature associating DOCK8 and leukocyte adhesion deficiency 1

DOCK8 [ENSP00000394888]

Dedicator of cytokinesis protein 8; Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP . During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane . Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing . ECO:0000269|PubMed:22461490, ECO:0000269|PubMed:25762780,; Belongs to the DOCK family.

Synonyms:  DOCK8,  DOCK8p,  hDOCK8,  A2A369,  A2A370 ...

Linkouts:  STRING  Pharos  UniProt