Disease-gene associations mined from literature

Literature associating TTN and neuromuscular junction disease

TTN [ENSP00000467141]

Rhabdomyosarcoma antigen MU-RMS-40.14; Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase; Fibronectin type III domain containing

Synonyms:  TTN,  A2TKE3,  A2TKE4,  A2TKE6,  C9JQJ2 ...

Linkouts:  STRING  Pharos  UniProt