DISEASES

Disease-gene associations mined from literature

Literature associating SYNM and Alexander disease

SYNM [ENSP00000336775]

Synemin, intermediate filament protein; 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; A-kinase anchoring proteins

Synonyms:  SYNM,  C9JIE4,  H0YL34,  O15061,  C9JIE4p ...

Linkouts:  STRING  Pharos  UniProt  OMIM