Disease-gene associations mined from literature

Literature associating DOCK7 and Pitt-Hopkins-like syndrome 2

DOCK7 [ENSP00000251157]

Dedicator of cytokinesis protein 7; Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization. Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity); DOCK C2 domain containing

Synonyms:  DOCK7,  DOCK7p,  hDOCK7,  A4FU72,  Q96N67 ...

Linkouts:  STRING  Pharos  UniProt