Entrez Summary: 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].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
efhand 1
ZZ
efhand 2
GO Terms
neuromuscular synaptic transmission
extrinsic component of cytoplasmic side of plasma membrane
PDZ domain binding
sarcolemma
striated muscle contraction
muscle contraction
synapse
axon
muscle system process
chemical synaptic transmission
anterograde trans-synaptic signaling
trans-synaptic signaling
synaptic signaling
cell junction
protein-containing complex
zinc ion binding
cell-cell signaling
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)