Dystrobrevin alpha is a
protein that in humans is encoded by the ''DTNA''
gene.
Function
The protein encoded by this gene belongs to the
dystrobrevin subfamily and the
dystrophin family. This protein is a component of the
dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including
dystroglycans,
sarcoglycans
The sarcoglycans are a family of transmembrane proteins (α, β, γ, δ or ε) involved in the protein complex responsible for connecting the muscle fibre cytoskeleton to the extracellular matrix, preventing damage to the muscle fibre sarcolemma t ...
,
syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of
muscular dystrophy
Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affe ...
. This protein may be involved in the formation and stability of
synapse
In the nervous system, a synapse is a structure that permits a neuron (or nerve cell) to pass an electrical or chemical signal to another neuron or to the target effector cell.
Synapses are essential to the transmission of nervous impulses from ...
s as well as the clustering of
nicotinic acetylcholine receptors. Multiple
alternatively spliced transcript variants encoding different isoforms have been identified.
Clinical significance
Mutations in ''DTNA'' are associated with
Ménière's disease.
Interactions
Dystrobrevin has been shown to
interact with dystrophin.
References
Further reading
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