DISEASES

Disease-gene associations mined from literature

Literature associating DIAPH3 and benign epilepsy with centrotemporal spikes

DIAPH3 [ENSP00000383178]

Protein diaphanous homolog 3; Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity); Armadillo-like helical domain containing

Synonyms:  DIAPH3,  DIAPH3p,  hDIAPH3,  Q9NSV4,  DIAP3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM