DISEASES

Disease-gene associations mined from literature

Literature associating DBNL and dilated cardiomyopathy 1P

DBNL [ENSP00000417653]

HPK1-interacting protein of 55 kDa; Adapter protein that binds F-actin and DNM1, and thereby plays a role in receptor-mediated endocytosis. Plays a role in the reorganization of the actin cytoskeleton, formation of cell projections, such as neurites, in neuron morphogenesis and synapse formation via its interaction with WASL and COBL. Does not bind G- actin and promote actin polymerization by itself. Required for the formation of organized podosome rosettes (By similarity). May act as a common effector of antigen receptor-signaling pathways in leukocytes. Acts as a key component of the immunological synapse that regulates T-cell activation by bridging TCRs and the actin cytoskeleton to gene activation and endocytic processes.

Synonyms:  DBNL,  B4DDD6,  B4DDP6,  B4DXL9,  F2Z2V3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM