| Entrez gene ID | | 8557 |
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| Official gene symbol | | TCAP |
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| Full name | | titin-cap (telethonin) |
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| Aliases | | ,CMD1N,LGMD2G,T-cap,TELE,telethonin, |
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| Gene summary | | Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq] |
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| Location | | Chromosome: 17 Locus: 17q12 |
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| Gene position | | 37821599 - 37822807 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 1209 bp |
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| Gene sequence |
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| OMIM ID | | 604488 |
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