Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol TTN
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).


Additional content available in CKB BOOST