DISEASES

Disease-gene associations mined from literature

Literature associating CDC42EP4 and Opitz-GBBB syndrome

CDC42EP4 [ENSP00000338258]

CDC42 effector protein (Rho GTPase binding) 4; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation, when overexpressed in fibroblasts; Belongs to the BORG/CEP family.

Synonyms:  CDC42EP4,  B2R6D8,  B3KUS7,  J3KRZ9,  J3QQS6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM