DTNA

Dystrobrevin, alpha
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2E5R
Identifiers
Symbols	DTNA ; D18S892E; DRP3; DTN; DTN-A; LVNC1
External IDs	OMIM: 601239 MGI: 106039 HomoloGene: 20362 GeneCards: DTNA Gene
Gene ontology Molecular function • protein binding • zinc ion binding • PDZ domain binding Cellular component • cytoplasm • cell junction • axon • extrinsic component of cytoplasmic side of plasma membrane • sarcolemma • protein complex • synapse Biological process • striated muscle contraction • signal transduction • synaptic transmission • neuromuscular synaptic transmission Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1837	13527
Ensembl	ENSG00000134769	ENSMUSG00000024302
UniProt	Q9Y4J8	Q9D2N4
RefSeq (mRNA)	NM_001128175	NM_001285807
RefSeq (protein)	NP_001121647	NP_001272736
Location (UCSC)	Chr 18: 34.49 – 34.89 Mb	Chr 18: 23.42 – 23.66 Mb
PubMed search	[1]	[2]

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, 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.

See also

• Dystrobrevin