DISEASES

Disease-gene associations mined from literature

Literature associating NCKAP1 and Hennekam syndrome

NCKAP1 [ENSP00000354251]

Nck-associated protein 1; Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes.

Synonyms:  NCKAP1,  NCKAP1p,  hNCKAP1,  Q9Y2A7,  Q9Y2A7p ...

Linkouts:  STRING  Pharos  UniProt  OMIM