DTNA

The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which 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. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Description

Dystrobrevin alpha

Tissue specificity

Group enriched (brain, choroid plexus, heart muscle, skeletal muscle, tongue)

Subcell location

Nucleoplasm, Cell Junctions, Intermediate filaments

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

18 (34493290 - 34891844)

Ensembl ID

ENSG00000134769  (ver. 103.38)

Orthologs

Mouse Dtna: ENSMUSG00000024302

UniProt

Q9Y4J8

neXtProt

NX_Q9Y4J8

Human splice variants
Mouse splice variants

Protein structure