Disease-gene associations mined from literature

Literature associating FLNC and frontometaphyseal dysplasia

FLNC [ENSP00000327145]

Filamin-C; Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers.

Synonyms:  FLNC,  Q14315,  Q14315p,  hQ14315,  1V05 ...

Linkouts:  STRING  Pharos  UniProt  OMIM