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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)
CCC F894
HGNC 11610
MGI 1330233
PubMed 21799151
UniProt O15273
Wiki Telethonin
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 NAME APPLICATIONS
Proteins n/a Recombinant Telethonin (TELE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Telethonin (TELE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Telethonin (TELE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Telethonin (TELE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Telethonin (TELE) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Telethonin (TELE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Telethonin (TELE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Telethonin (TELE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Telethonin (TELE) CLIA Kit Customized Service Offer
n/a ELISA 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]