Aliases for NEBL Gene
External Ids for NEBL Gene
Previous HGNC Symbols for NEBL Gene
Previous GeneCards Identifiers for NEBL Gene
This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
GeneCards Summary for NEBL Gene
NEBL (Nebulette) is a Protein Coding gene. Diseases associated with NEBL include Endocardial Fibroelastosis and Dilated Cardiomyopathy. Gene Ontology (GO) annotations related to this gene include actin filament binding and structural constituent of muscle. An important paralog of this gene is NEB.
UniProtKB/Swiss-Prot Summary for NEBL Gene
Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). Isoform 2 might play a role in the assembly of focal adhesion (PubMed:15004028).