FLII
Function
Is a regulator of actin polymerization, required for proper myofibril organization and regulation of the length of sarcomeric thin filaments (By similarity). It also plays a role in the assembly of cardiomyocyte cell adhesion complexes (By similarity). Regulates cytoskeletal rearrangements involved in cytokinesis and cell migration, by inhibiting Rac1-dependent paxillin phosphorylation (By similarity). May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1 (PubMed:14966289). Involved in estrogen hormone signaling.
Involvement in disease
Cardiomyopathy, dilated, 2J
CMD2J
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2J is an autosomal recessive form characterized by onset of heart failure within the first year of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Strongest expression in skeletal muscle with high expression also in the heart and lung.
Cellular localization
- Nucleus
- Cytoplasm
- Cytoskeleton
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cell projection
- Podosome
- Cell junction
- Focal adhesion
- Colocalizes to actin-rich structures in blastocysts and, together with HRAS, RHOA and CDC42, in migrating fibroblasts. Localizes to centrosomes (By similarity). Localized to the core of macrophage podosomes (By similarity).
Alternative names
FLIL, FLII, Protein flightless-1 homolog