DISEASES

Disease-gene associations mined from literature

Literature associating IQGAP1 and epithelial basement membrane dystrophy

IQGAP1 [ENSP00000268182]

IQ motif containing GTPase activating protein 1; Binds to activated CDC42 but does not stimulate its GTPase activity. It associates with calmodulin. Could serve as an assembly scaffold for the organization of a multimolecular complex that would interface incoming signals to the reorganization of the actin cytoskeleton at the plasma membrane. May promote neurite outgrowth.

Synonyms:  IQGAP1,  IQGAP1p,  hIQGAP1,  A0A024RC65,  H0YKA5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM