Disease-gene associations mined from literature

Literature associating SUN1 and autosomal dominant Emery-Dreifuss muscular dystrophy 5

SUN1 [ENSP00000384015]

Sad1 and UNC84 domain containing 1; 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. Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration. Involved in telomere attachment to nuclear envelope in the prophase of meiosis implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly. Required for gametogenesis and involved in selective gene expression of coding and non-coding RNAs needed for gametogenesis. Helps to define the distribution of nuclear pore complexes (NPCs). Required for efficient localization of SYNE4 in the nuclear envelope. May be involved in nuclear remodeling during sperm head formation in spermatogenenis.

Synonyms:  SUN1,  SUN1p,  hSUN1,  C9JJU6,  C9JK55 ...

Linkouts:  STRING  Pharos  UniProt  OMIM