DISEASES

Disease-gene associations mined from literature

Literature associating RAPGEF1 and atypical hemolytic-uremic syndrome

RAPGEF1 [ENSP00000361264]

Rap guanine nucleotide exchange factor 1; Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth.

Synonyms:  RAPGEF1,  RAPGEF1p,  hRAPGEF1,  H0Y4V2,  H0Y6R4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM