Disease-gene associations mined from literature

Literature associating SYNM and autosomal recessive limb-girdle muscular dystrophy type 2Q

SYNM [ENSP00000336775]

Synemin; 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.

Synonyms:  SYNM,  A0A075B7B1,  C9JIE4,  H0YL34,  O15061 ...

Linkouts:  STRING  Pharos  UniProt  OMIM