DISEASES

Disease-gene associations mined from literature

Literature associating CFL1 and hereditary sensory and autonomic neuropathy type 5

CFL1 [ENSP00000432660]

Cofilin, non-muscle isoform; Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity. Regulates actin cytoskeleton dynamics. Important for normal progress through mitosis and normal cytokinesis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required for the up-regulation of atypical chemokine receptor ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. Required for neural tube morphogenesis and neural crest cell migration (By similarity).

Synonyms:  CFL1,  CFL1p,  hCFL1,  E9PK25,  E9PLJ3 ...

Linkouts:  STRING  Pharos  UniProt