DISEASES

Disease-gene associations mined from literature

Literature associating DOCK8 and Job's syndrome

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; Belongs to the DOCK family.

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

Linkouts:  STRING  Pharos  UniProt