DISEASES

Disease-gene associations mined from literature

Literature associating CFL1 and atrial heart septal defect 2

CFL1 [ENSP00000432660]

Cofilin-1; 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 (PubMed:11812157, PubMed:15580268, PubMed:21834987, PubMed:23633677). Required for neural tube morphogenesis and neural crest cell migration (By similarity). ECO:0000269|PubMed:15580268, ECO:0000269|PubMed:21834987,

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

Linkouts:  STRING  Pharos  UniProt