DISEASES

Disease-gene associations mined from literature

Literature associating CFL2 and nemaline myopathy

CFL2 [ENSP00000298159]

Cofilin, muscle isoform; Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3. It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity); Belongs to the actin-binding proteins ADF family.

Synonyms:  CFL2,  CFL2p,  hCFL2,  F8WDN3,  G3V2U0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM