DBN1
Description
The DBN1 (drebrin 1) is a protein-coding gene located on chromosome 5.
Drebrin is a protein that in humans is encoded by the DBN1 gene. The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene.
Drebrin, also known as developmentally-regulated brain protein, is an actin cytoskeleton-organizing protein that plays a role in the formation of cell projections. It is required for actin polymerization at immunological synapses (IS) and for the recruitment of the chemokine receptor CXCR4 to IS. Drebrin plays a role in dendritic spine morphogenesis and organization, including the localization of the dopamine receptor DRD1 to the dendritic spines. It is involved in memory-related synaptic plasticity in the hippocampus.
DBN1 is also known as D0S117E.
Associated Diseases
- Alzheimer disease type 1
- urinary bladder carcinoma
- syndactyly type 4
- syndactyly type 1
- syndactyly type 5
- syndactyly type 3
- mesoaxial synostotic syndactyly with phalangeal reduction
- brachydactyly type A2
- symphalangism with multiple anomalies of hands and feet
- synpolydactyly type 1
- brachydactyly-syndactyly syndrome
- brachydactyly type A7
