Disease-gene associations mined from literature

Literature associating SVIL and frontometaphyseal dysplasia

SVIL [ENSP00000348128]

Supervillin; Isoform 1: Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation. Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function; Belongs to the villin/gelsolin family.

Synonyms:  SVIL,  O95425,  Q569J5,  O95425p,  hO95425 ...

Linkouts:  STRING  Pharos  UniProt  OMIM