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Myotilin (MYOT)

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LGMD1; LGMD1A; TTID; Myotolin; Myofibrillar Titin-Like Protein; TiTin Immunoglobulin Domain; Limb-Girdle Muscular Dystrophy 1A; 57 kDa cytoskeletal protein

Myotilin (MYOT)
CCC C644
HGNC 12399
MGI 1889800
PubMed 12499399
RGD 1310569
UniProt Q9UBF9
Wiki Myotilin
Striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin (TTN), a giant molecule that contains several immunoglobulin (Ig)-like domains and associates with thin and thick filaments, and alpha-actinin (ACTN1), an actin cross-linking protein. Mutations in several sarcomeric and sarcolemmal proteins have been shown to result in muscular dystrophy and cardiomyopathy.
Myotilin (myofibrillar titin-like protein) also known as TTID (TiTin Immunoglobulin Domain) is a skeletal muscle protein that is found within the Z-disc of sarcomeres. It is mutated in various forms of muscular dystrophy:

Organism species: Homo sapiens (Human)

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

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC644Mu01 Recombinant Myotilin (MYOT) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Myotilin (MYOT) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Myotilin (MYOT) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myotilin (MYOT) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myotilin (MYOT) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Myotilin (MYOT) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Myotilin (MYOT) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Myotilin (MYOT) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myotilin (MYOT) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myotilin (MYOT) ELISA Kit Customized Service Offer
  1. "TTID: a novel gene at 5q31 encoding a protein with titin-like features."Genomics 60:226-233(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy."Hum. Mol. Genet. 8:1329-1336(1999) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and comparative analysis of human chromosome 5." Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "Indications for a novel muscular dystrophy pathway: gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin."J. Cell Biol. 151:235-248(2000) [PubMed] [Europe PMC] [Abstract]
  7. "Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly."Hum. Mol. Genet. 12:189-203(2003) [PubMed] [Europe PMC] [Abstract]
  8. "The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins."J. Cell Sci. 118:3739-3749(2005) [PubMed] [Europe PMC] [Abstract]
  9. "Solution structure of the first immunoglobulin domain of human myotilin."J. Biomol. NMR 44:107-112(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Solution NMR structure of the Ig-like C2-type 2 domain of human myotilin. Northeast structural genomics target HR3158."Submitted (JUL-2009) to the PDB data bank
  11. "Myotilin is mutated in limb girdle muscular dystrophy 1A."Hum. Mol. Genet. 9:2141-2147(2000) [PubMed] [Europe PMC] [Abstract]
  12. "Myotilin mutation found in second pedigree with LGMD1A."Am. J. Hum. Genet. 71:1428-1432(2002) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in myotilin cause myofibrillar myopathy."Neurology 62:1363-1371(2004) [PubMed] [Europe PMC] [Abstract]
  14. ErratumNeurology 63:405-405(2004)
  15. "A mutation in myotilin causes spheroid body myopathy."Neurology 65:1936-1940(2005) [PubMed] [Europe PMC] [Abstract]
  16. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]