Aliases for SYNM Gene
External Ids for SYNM Gene
Previous HGNC Symbols for SYNM Gene
Previous GeneCards Identifiers for SYNM Gene
The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SYNM Gene
SYNM (Synemin) is a Protein Coding gene. Diseases associated with SYNM include Alexander Disease and Epidermolysis Bullosa Simplex With Muscular Dystrophy. Among its related pathways are Cytoskeleton remodeling Neurofilaments. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of muscle. An important paralog of this gene is NES.
UniProtKB/Swiss-Prot for SYNM Gene
Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteropolymeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteropolymeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells.