A family of dystrophin-associated proteins with α and β isoforms that have significant sequence homology with several protein-binding domains of the dystrophin C-terminal region. Five distinct mRNA transcripts of α-dystrobrevin are expressed in tissue-specific ways; β-dystrobrevin is the nonmuscle form and is abundantly expressed in brain and other tissues. Dystrobrevin interacts with kinesin and may play a role in the transport and targeting of components of the dystrophin-associated protein complex to specific sites in the cell. Dystrobrevin-binding protein 1 (dysbindin, 351 aa) is ubiquitously expressed and through dystrobrevin is linked to the dystrophin-associated protein complex (DPC), which appears to be involved in signal transduction pathways, and to BLOC-1. The gene has been suggested as a potential susceptibility gene for schizophrenia. α- and β-Dystrobrevin colocalize at the sarcolemma of most muscle fibres and in large blood vessels and in axon bundles in the brain. Normal function is important for platelet-dense granule and melanosome biogenesis. See Hermansky–Pudlak syndrome.
Subjects: Medicine and Health.