Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : email@example.com
|Synonyms||CMD1G | CMH9 | CMPD4 | EOMFC | HMERF | LGMD2J | LGMDR10 | MYLK5 | SALMY | TMD|
|Gene Description||TTN, titin, is a large protein filament that is a major component of the sarcomere and plays mechanical, organizational, and signaling roles in cardiac and skeletal muscle (PMID: 21257761, PMID: 31849696). TTN has been demonstrated to be frequently mutated in several tumor types (PMID: 17344846, PMID: 18085994) and missense mutations have been associated with a better prognosis in lung squamous cell carcinoma (PMID: 30810839).|