DBNL
Description
The DBNL (drebrin like) is a protein-coding gene located on chromosome 7.
DBNL, also known as Drebrin-like, is a human gene. It is not to be confused with the Digital Library for Dutch Literature (dbnl) website.
DBNL plays a crucial role in receptor-mediated endocytosis by binding to F-actin and DNM1. It contributes to the reorganization of the actin cytoskeleton and the formation of cell projections, like neurites, which are essential for neuron development and synapse formation. DBNL interacts with WASL and COBL during these processes. While it doesn't bind to G-actin or directly promote actin polymerization, it is necessary for the formation of organized podosome rosettes. DBNL might also serve as a common effector in antigen receptor-signaling pathways within leukocytes. Acting as a key component of the immunological synapse, DBNL regulates T-cell activation by connecting TCRs and the actin cytoskeleton, thus influencing gene activation and endocytic processes.
DBNL is also known as ABP1, HIP-55, HIP55, SH3P7.
Associated Diseases
- glycogen storage disease due to phosphoglycerate mutase deficiency
- ovarian cancer
- familial infantile myoclonic epilepsy
- spinocerebellar ataxia type 20
- infantile-onset generalized dyskinesia with orofacial involvement
- spinocerebellar ataxia type 35
- X-linked dystonia-parkinsonism
- isolated agammaglobulinemia
- dystonia 23
