2024年12月25日 · Complete information for TTN gene (Protein Coding), Titin, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene …

HGNC Approved Gene Symbol: TTN. Titin, or connectin, is a giant muscle protein expressed in the cardiac and skeletal muscles that spans half of the sarcomere from Z line to M line. Titin …

This gene has 15 transcripts (splice variants), 11 paralogues and is associated with 22 phenotypes. Show transcript table. Sorry, the page request …

Heterozygous TTN truncating variants (TTNtv) increase the risk of a cardiomyopathy. At the same time, TTNtv and few missense variants have been identified in patients with mainly recessive ...

Full gene name according to HGNC. Official gene symbol, which is typically a short form of the gene name, according to HGNC. Assigned HPA protein class (es) for the encoded protein (s). …

2025年2月8日 · Gene target information for TTN - titin (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we determined the inheritance pattern, unique genetic basis (missense and truncating variants in the M line), and …

2021年11月11日 · Open symbols indicate no signs or symptoms of hereditary myopathy with early respiratory failure (HMERF). Filled symbols represent affected individuals.

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