Species Human Entrez 1837 | Human Mouse Ensembl ENSG00000134769 | |
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Aliases DTNA, D18S892E, DRP3, DTN, DTN-A, LVNC1, dystrobrevin alpha External IDs MGI: 106039 HomoloGene: 20362 GeneCards: DTNA | ||
Dystrobrevin alpha is a protein that in humans is encoded by the DTNA gene.
Contents
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, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. This protein may be involved in the formation and stability of synapses 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 to Meniere's disease .
Interactions
DTNA has been shown to interact with dystrophin.