Telethonin (TELE)

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TCAP; CMD1N; LGMD2G; T-cap; Titin-cap; 19 kDa Sarcomeric Protein; Limb Girdle Muscular Dystrophy 2G(Autosomal Recessive)

Telethonin (TELE)
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.Telethonin 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.
Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.The C-terminal domain appears to be unstructured in solution. It may promote the assembly of higher order TTN complexes.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Telethonin (TELE)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Telethonin (TELE)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Telethonin (TELE)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Telethonin (TELE)CLIA Kit Customized Service Offer
n/aELISA Kit for Telethonin (TELE)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Telethonin (TELE)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Telethonin (TELE)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Telethonin (TELE)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Telethonin (TELE)CLIA Kit Customized Service Offer
n/aELISA Kit for Telethonin (TELE)ELISA Kit Customized Service Offer
  1. "Telethonin, a novel sarcomeric protein of heart and skeletal muscle."FEBS Lett. 415:163-168(1997) [PubMed] [Europe PMC] [Abstract]
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin."FEBS Lett. 428:111-114(1998) [PubMed] [Europe PMC] [Abstract]
  4. "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle."J. Biol. Chem. 275:41234-41242(2000) [PubMed] [Europe PMC] [Abstract]
  5. "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins."J. Biol. Chem. 277:13998-14004(2002) [PubMed] [Europe PMC] [Abstract]
  6. "The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle."J. Mol. Biol. 339:313-325(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk."Nature 439:229-233(2006) [PubMed] [Europe PMC] [Abstract]
  8. "Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus."J. Struct. Biol. 155:239-250(2006) [PubMed] [Europe PMC] [Abstract]
  9. "Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin."Nat. Genet. 24:163-166(2000) [PubMed] [Europe PMC] [Abstract]
  10. "The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy." Cell 111:943-955(2002) [PubMed] [Europe PMC] [Abstract]
  11. "Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin."Mol. Genet. Metab. 88:78-85(2006) [PubMed] [Europe PMC] [Abstract]
  12. "Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism."Mol. Genet. Metab. 88:199-200(2006) [PubMed] [Europe PMC] [Abstract]
  13. "Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population."Mol. Genet. Metab. 89:286-287(2006) [PubMed] [Europe PMC] [Abstract]
  14. "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy." J. Am. Coll. Cardiol. 44:2192-2201(2004) [PubMed] [Europe PMC] [Abstract]