Disease-gene associations mined from literature

Literature associating SYNE3 and congenital muscular dystrophy due to LMNA mutation

SYNE3 [ENSP00000334308]

Spectrin repeat containing, nuclear envelope family member 3; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is required for flow-induced centrosome polarization and directional migration in aortic endothelial cells; Belongs to the nesprin family.

Synonyms:  SYNE3,  SYNE3p,  hSYNE3,  G3V533,  Q6ZMZ3 ...

Linkouts:  STRING  Pharos  UniProt