LIMS2
Function
Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration.
Involvement in disease
Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue
MDRCMTT
An autosomal recessive muscular dystrophy characterized by childhood-onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue.
None
The disease may be caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
- Cell junction
- Focal adhesion
- Cell membrane
- Peripheral membrane protein
- Cytoplasmic side
Alternative names
PINCH2, LIMS2, LIM and senescent cell antigen-like-containing domain protein 2, LIM-like protein 2, Particularly interesting new Cys-His protein 2, PINCH-2