Disease-gene associations mined from literature

Literature associating SYNE1 and autosomal dominant Emery-Dreifuss muscular dystrophy 5

SYNE1 [ENSP00000356224]

Spectrin repeat containing, nuclear envelope 1; Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. 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. May be involved in nucleus-centrososme attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette; Spectrin repeat containing nuclear envelope family

Synonyms:  SYNE1,  SYNE1p,  hSYNE1,  B7Z9Y6,  F5GXQ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM