Human Titin(TTN) ELISA kit

Instructions
Code CSB-EL025267HU
Size 96T,5×96T,10×96T
See More Details 24T ELISA kits trial application
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Product Details

Target Name titin
Alternative Names MPRM ELISA Kit; Cardiomyopathy dilated 1G (autosomal dominant) ELISA Kit; CMD1G ELISA Kit; CMH 9 ELISA Kit; CMH9 ELISA Kit; CMPD 4 ELISA Kit; CMPD4 ELISA Kit; Connectin ELISA Kit; DKFZp451N061 ELISA Kit; EOMFC ELISA Kit; FLJ26020 ELISA Kit; FLJ26409 ELISA Kit; FLJ32040 ELISA Kit; FLJ34413 ELISA Kit; FLJ39564 ELISA Kit; FLJ43066 ELISA Kit; HMERF ELISA Kit; LGMD2J ELISA Kit; MU RMS 40.14 ELISA Kit; MYLK5 ELISA Kit; Rhabdomyosarcoma antigen ELISA Kit; Rhabdomyosarcoma antigen MU RMS 40.14 ELISA Kit; Rhabdomyosarcoma antigen MU-RMS-40.14 ELISA Kit; Titin ELISA Kit; TITIN_HUMAN ELISA Kit; TMD ELISA Kit; TTN ELISA Kit
Abbreviation TTN
Uniprot No. Q8WZ42
Species Homo sapiens (Human)
Sample Types serum, plasma, tissue homogenates, cell lysates
Detection Range 23.5 pg/mL-1500 pg/mL
Sensitivity 5.8 pg/mL
Assay Time 1-5h
Sample Volume 50-100ul
Detection Wavelength 450 nm
Research Area Signal Transduction
Assay Principle quantitative
Measurement Sandwich
Precision
Intra-assay Precision (Precision within an assay): CV%<8%
Three samples of known concentration were tested twenty times on one plate to assess.
Inter-assay Precision (Precision between assays): CV%<10%
Three samples of known concentration were tested in twenty assays to assess.
Linearity
To assess the linearity of the assay, samples were spiked with high concentrations of human TTN in various matrices and diluted with the Sample Diluent to produce samples with values within the dynamic range of the assay.
 SampleSerum(n=4)
1:1Average %98
Range %94-104
1:2Average %96
Range %91-101
1:4Average %93
Range %87-99
1:8Average %92
Range %84-98
Recovery
The recovery of human TTN spiked to levels throughout the range of the assay in various matrices was evaluated. Samples were diluted prior to assay as directed in the Sample Preparation section.
Sample TypeAverage % RecoveryRange
Serum (n=5) 9692-100
EDTA plasma (n=4)9890-106
Typical Data
These standard curves are provided for demonstration only. A standard curve should be generated for each set of samples assayed.
pg/mlOD1OD2AverageCorrected
15002.195 2.095 2.145 2.014
7501.594 1.494 1.544 1.413
3750.932 0.892 0.912 0.781
187.50.506 0.486 0.496 0.365
940.352 0.342 0.347 0.216
470.229 0.219 0.224 0.093
23.50.168 0.162 0.165 0.034
00.131 0.130 0.131  
Troubleshooting
and FAQs
ELISA kit FAQs
Storage Store at 2-8°C. Please refer to protocol.
Lead Time 7-14 working days

Target Data

Function Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.
Gene References into Functions
  1. Among the 120 dilated cardiomyopathy patients, 20 (16.7%) had TTN truncating variants. PMID: 29386531
  2. In a case-control study, there was a statistically significant association between an LOF variant in the TTN gene and early-onset AF, with the variant present in a small percentage of participants with early-onset AF (the case group). PMID: 30535219
  3. novel titin gene-truncating mutation NM_001267550: p.Leu23499fs/c.70497_40498insT found in the proband as well as in her mother in woman with peripartum cardiomyopathy PMID: 29997384
  4. Titin isoform expression differs in aortic stenosis and aortic regurgitation as adaptive response to different pathophysiologic scenarios. PMID: 29472025
  5. TTN missense variants were commonly identified in arrhythmogenic cardiomyopathy patients in this cohort, but did not appear to play a primary role in ACM as causative variants. PMID: 29750433
  6. This is the first study to suggest the involvement of the novel missense CACNA1C c.1786G>A and TTN c.49415G>A variants in the inheritance of symptomatic bradycardia and development of sick sinus syndrome. PMID: 29568937
  7. We employed WES to detect the mutations of DCM patients and identified 2 novel mutations. Our study expands the spectrum of TTN mutations and offers accurate genetic testing information for DCM patients who are still clinically negative. PMID: 27544385
  8. urinary concentration of titin correlated significantly with serum creatine kinase concentration, the best-known biomarker of Duchenne muscular dystrophy; the N-terminal fragment of titin in urine has potential as a diagnostic and clinical biomarker for DMD PMID: 29175173
  9. we considered titin fragments as promising candidates for reliable and non-invasive biomarkers of muscle injury. PMID: 27991570
  10. TTN plays a role in regulation of cardiac electrical conductance and coupling, and is a risk factor for cardiac arrhythmias and sudden cardiac death PMID: 27321809
  11. The T-allele at rs10497520 in the TTN gene is associated with shorter skeletal muscle fascicle length and conveys an advantage for marathon running performance in habitually trained men. PMID: 28581678
  12. An overview of the different neuromuscular disorders caused by mutations in the TTN gene, reviewing the molecular findings as well as the clinical data (review). PMID: 27854229
  13. This review considers data on structural and functional features of titin, on the role of this protein in determination of mechanical properties of sarcomeres, and on specific features of regulation of the stiffness and elasticity of its molecules, and possible amyloid aggregation of this protein PMID: 29523065
  14. Exome sequencing was conducted and a novel mutation c.107788T>C (p.W35930R) in the titin gene (TTN) was identified. PMID: 26392295
  15. Study found that there is a missense mutation in the TTN gene, c.100126A > G (p.Thr33376Ala), in a family whose members suffer from familial dilated cardiomyopathy. TTN is closely related to dilated cardiomyopathy and is an important causative gene of familial dilated cardiomyopathy. PMID: 29109008
  16. Truncating titin mutations cause a mild and treatable form of dilated cardiomyopathy. PMID: 27813223
  17. Activation of titin protein represents an initial step forward adaptive remodelling of the exercised muscle and may also be involved in the initiation of myofibre repair. PMID: 28712031
  18. Novel A178D missense mutation in titin is a cause of a highly penetrant familial cardiomyopathy with features of left ventricular noncompaction. PMID: 27625337
  19. Quantitative models derived from large-scale human genetic and phenotypic data can be applied to truncating mutations in titin in dilated cardiomyopathy. PMID: 27625338
  20. Variants near TTN and CCDC8 were associated with KI67 expression, and rs2288563 and rs2562832 in TTN are potential biomarkers for the prediction of clinical outcomes in hepatitis B-related hepatocellular carcinoma patients. PMID: 28700999
  21. Recent studies classify pathogenic variants in the TTN gene as the main responsible for Familial Dilated Cardiomyopathy. PMID: 27736720
  22. TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death. PMID: 28822653
  23. Heterozygous loss of RBM20 suffices to profoundly impair myocyte biomechanics by its disturbance of TTN splicing causing dilated cardiomyopathy. PMID: 27496873
  24. Study identified a probable association between variation in TTN gene and patients with sudden unexpected death syndrome. PMID: 28704380
  25. We report that missense variant in the A-band of TTN gene is the strongest candidate mutation for autosomal-dominant inguinal hernia with incomplete penetrance. PMID: 27115767
  26. Titin-truncating variant is associated with dilated cardiomyopathy. PMID: 27869827
  27. Data suggest that disulfide bonds can alter mechanical stability of proteins in different ways depending on properties of system. Disulfide-bonded E coli FimG (minor component of type 1 fimbriae) undergoes a 30% increase in its mechanical stability compared with its reduced counterpart. Unfolding force of human titan I91 domain exhibits decrease of 15% relative to the wild-type form. PMID: 28642368
  28. TTN truncating variants were observed in nearly one fourth of young dilated cardiomyopathy patient population, in vast majority without conduction system disease. PMID: 28045975
  29. detected an Linkage Disequilibrium block associated with a rapid functional decline in patients with sporadic ALS, which is linked to decreased expression of TTN. PMID: 26746183
  30. An estimated probability of pathogenicity of TTN truncating mutations affecting all transcripts of TTN, identified in unselected dilated cardiomyopathy patients is 97.8%. PMID: 26777568
  31. TTN variant segregated with hypertrophic cardiomyopathy in affected members of the family. PMID: 28223422
  32. A distinct phenotype for patients with distal myopathy is associated with novel recessive TTN variants including a Serbian founder variant. PMID: 28295036
  33. Results show that the titin I27Y9P variant has similar mechanical stability as the wildtype. PMID: 27021163
  34. Phosphorylating Titin's Cardiac N2B Element by ERK2 or CaMKIIdelta Lowers the Single Molecule and Cardiac Muscle Force PMID: 26682816
  35. Suggest a potential biological role for some TTN missense variants in dilated cardiomyopathy. PMID: 26567375
  36. Data suggest that titin functions as an integrated protein chain where functionalities emerge from the joint action of titan and other sarcomere/A-band components (such as TCAP); titin exhibits tertiary elasticity and molecular shape memory. [REVIEW] PMID: 26517893
  37. a large number of VUS in the TTN gene were identified from a cohort of samples from patients suffering cardiac diseases associated with sudden cardiac death. PMID: 26516846
  38. TTN mutations have been strongly associated with four cardiomyopathies: Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy and Restrictive cardiomyopathy. PMID: 26024954
  39. The distribution of truncating variants in a large series of women with peripartum cardiomyopathy was remarkably similar to that found in patients with idiopathic dilated cardiomyopathy. PMID: 26735901
  40. Cleavage of C-terminal titin by CAPN3 is associated with limb-girdle muscular dystrophy 2A and tibial muscular dystrophy. PMID: 25877298
  41. findings indicate that titin mutations cause dilated cardiomyopathy by disrupting critical linkages between sarcomerogenesis and adaptive remodeling PMID: 26315439
  42. Engineered all four of the naturally occurring human M10 (the extreme C-terminus of titin) missense mutants and biophysically characterized them in vitro. PMID: 25739468
  43. an increase in intracellular Ca(2+) concentration leads to Ca(2+) binding to the PEVK region of titin. PMID: 25421125
  44. An increase in the degree of titin phosphorylation results in increased proteolytic degradation of this protein, that contributes to the development of skeletal muscle atrophy. PMID: 26394485
  45. TTNtv is the most common genetic cause of dilated cardiomyopathy in ambulant patients PMID: 25589632
  46. MMP-2 degraded Titin fragment in serum is related to induction of skeletal muscle atrophy. PMID: 25077715
  47. individual subfragments of titin and myomesin composed of Fn type III and Ig-like domains can activate expression of two IGF-1 splice forms in cultured myoblasts PMID: 25152160
  48. Patients with hypertension and heart failure with preserved ejection fraction had an increase in S11878(S26), no change in S12022(S170) and a decrease in S4185(S469). There were no significant differences between HTN(-)HFpEF or controls at these 3 sites. PMID: 25637629
  49. Results suggest that mutation in TTN could be implicated in the pathogenesis of puerperal cardiomyopathies. PMID: 24558114
  50. this study presents here the X-ray structure of the human titin:obscurin M10:O1 complex extending our previous work on the M10:OL1 interaction. PMID: 25490259
  51. DNA sequence analysis of patients with dilated cardiomyopathy shows that genetic variation in TTN gene contributes to a 14% of the cases. PMID: 24503780
  52. alpha-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin PMID: 25447537
  53. Eccentric explosive exercise induced a stretch or fragmentation of titin, which presented as a positional change of the COOH terminus. PMID: 24458745
  54. Data reveal that Titin protein is a pseudokinase with non-detectable catalytic output but is a high-affinity binding locus for MuRF1. PMID: 24850911
  55. Investigated how hereditary myopathy with early respiratory failure disease-causing mutations affect the biochemical behavior of TTN gene that codes for the fibronectin III domain 119; suggests defective protein folding PMID: 24636144
  56. This study proves that the titin p.C30071R mutation itself (rather than the haplotype containing this mutation) causes hereditary myopathy with early respiratory failure and suggests its independent origin in different ethnic groups. PMID: 24444549
  57. In a novel mouse model, titin's stiffness is slightly increased by deleting nine immunoglobulin (Ig)-like domains from titin's constitutively expressed proximal tandem Ig segment (IG KO). PMID: 24470489
  58. Heterozygous TTN truncating mutations may not manifest unless associated with a second mutation in novel forms of core myopathy with heart disease. PMID: 24105469
  59. Mutations in titin were found to cause familial restrictive cardiomyopathy. PMID: 24315344
  60. the hereditary myopathy with early respiratory failure due to mutations in the TTN gene be nosologically classified as myofibrillar myopathy-titinopathy. PMID: 23486992
  61. Study shows that mechanical unfolding of titin immunoglobulin (Ig) domains exposes buried cysteine residues, which then can be S-glutathionylated. S-glutathionylation of cryptic cysteines greatly decreases the mechanical stability of the parent Ig domain as well as its ability to fold. Both effects favor a more extensible state of titin. PMID: 24630725
  62. This review covers the roles of cardiac titin in normal and failing hearts, emphasizing its contribution to diastolic stiffness, and updates disease-associated titin mutations and the impact of protein-protein interactions on its properties and functions. PMID: 24625729
  63. The results of this study demonistrated that complexity of muscular dystrophies caused by TTN mutations and suggest that the coexistence of second mutations may constitute a more common general mechanism explaining phenotype variability. PMID: 24395473
  64. Differential changes in titin domain phosphorylation increase myofilament stiffness in failing human hearts. PMID: 23764881
  65. High TTN expression is associated with gastric cancer. PMID: 23907728
  66. a strong relationship between mutations in the A-band domain of titin and hereditary myopathy with early respiratory failure PMID: 23446887
  67. novel titin Ig-calcium interaction PMID: 23224300
  68. TTN mutations are associated with centronuclear myopathy (CNM): TTN mutation analysis should be considered in cases of possible CNM without mutations in the classic CNM genes. PMID: 23975875
  69. TTN was the only gene with inplicated rare variants that occurred in multiple DCM families and A region (chr9q21.11-q22.31) with no known DCM genes with a maximum heterogeneity logarithm of odds score of 1.74. PMID: 23418287
  70. This study identified p.Gly30150Asp and the p.Cys30071Arg mutation are localized to a side chain of fibronectin type III element A150 of the 10th C-zone super-repeat of titin. PMID: 23514108
  71. [review] Signal pathways of titin isoforms are described in a major human cardiovascular disease. PMID: 23439446
  72. Human end-stage failing hearts revealed higher CaMKII expression/activity & phosphorylation at PEVK/titin N2B-unique sequence sites than donor hearts. Deranged CaMKII-dependent titin phosphorylation contributes to altered diastolic stress. PMID: 23283722
  73. titin-12670 fragment is present in both individuals with undiagnosed and diagnosed CVD. The statistically significant increase in level of the marker in the AMI group is indicative that this neoepitope biomarker may be a useful serological marker in AMI PMID: 22768802
  74. Different pressure-temperature behavior of the structured and unstructured regions of titin. PMID: 23063534
  75. A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics. PMID: 22778266
  76. Spontaneous dimerization of titin protein Z1Z2 domains induces strong nanomechanical anchoring. PMID: 22523089
  77. This study presented that patients with hereditary myopathy with early respiratory failure linke with Titin mutation. PMID: 22577215
  78. This study identified three different Swedish Hereditary myopathy with early respiratory failure families with a new mutation in the A-band titin. PMID: 22577218
  79. In addition to titin (TTN), we identified a set of 30 genes with conserved splicing regulation between humans and rats PMID: 22466703
  80. in response to the increased compliance of the extracellular matrix in muscle of tenascin-X deficient Ehlers-Danlos Syndrome patients, a marked intracellular stiffening occurs of the giant protein titin PMID: 22223454
  81. In the present study, we describe a novel titin truncation mutation causing adult-onset familial dilated cardiomyopathy in an Israeli Arab family. PMID: 22475360
  82. Robust and processive unfolding/degradation of some substrates with very stable protein domains, including mDHFR and titin(I27) . PMID: 22162032
  83. TTN truncating mutations are a common cause of dilated cardiomyopathy, occurring in approximately 25% of familial cases of idiopathic dilated cardiomyopathy and in 18% of sporadic cases. PMID: 22335739
  84. titin kinase is organized in such a way that the regulatory domains have to unfold before secondary structure elements that determine the overall fold and catalytic function PMID: 22004752
  85. MMP-2 localizes to titin at the Z-disk region of the cardiac sarcomere and contributes to titin degradation in myocardial ischemia/reperfusion injury. PMID: 21041693
  86. Structural impairment of the titin spring is a likely cause of arrhythmogenic right ventricular cardiomyopahty and constitutes a novel mechanism underlying myocardial remodeling and sudden cardiac death. PMID: 21810661
  87. octamer structure studies by small-angle x-ray scattering and single-molecule force spectroscopy PMID: 21728583
  88. This study reports the characterization of both the expressed immunogenic domain and characterizes in more detail the cDNA and the specific antibody titin interactions involved in autoimmune rippling muscle disease. PMID: 21741357
  89. The giant protein titin: a regulatory node that integrates myocyte signaling pathways PMID: 21257761
  90. The anti-titin monoclonal antibody could be a valuable tool in the study of titin function and its subcellular location, both in muscle and non-muscle cells. PMID: 21050039
  91. a French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family was described PMID: 20571043
  92. This study evaluated the role of the main immunogenic region (MIR) of titin in MGT pathogenesis myasthenia gravis (MG) patients with thymoma. PMID: 20926005
  93. Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. PMID: 20634290
  94. Recent titin data is reviewed and its implications for sarcomere architecture and elasticity, are discussed. PMID: 20625501
  95. Results describe the molecular basis for the head-to-tail interaction of the carboxyl terminus of titin and the amino-terminus of obscurin-like-1 by X-ray crystallography. PMID: 20489725
  96. analysis of sequence conservation in FnIII domains from A-band titin points to the existence of conformationally defined interfaces at specific superrepeat positio PMID: 20542041
  97. the first Italian cases of TTN mutated titinopathy PMID: 19911250
  98. Using the actin-severing protein gelsolin, we obtained evidence that titin-actin interaction contributes significantly to passive myocardial stiffness. PMID: 20414336
  99. Review recent findings on the structure, molecular associations, and mechanics of titin's Z-disk region, and report experimental results on the dynamic strength of titin's Z1Z2 domains. PMID: 20414364
  100. role in diastolic heart function whereby passive stiffness can be fine tuned PMID: 20479164

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Involvement in disease Hereditary myopathy with early respiratory failure (HMERF); Cardiomyopathy, familial hypertrophic 9 (CMH9); Cardiomyopathy, dilated 1G (CMD1G); Tardive tibial muscular dystrophy (TMD); Limb-girdle muscular dystrophy 2J (LGMD2J); Salih myopathy (SALMY)
Subcellular Location Cytoplasm, Nucleus
Protein Families Protein kinase superfamily, CAMK Ser/Thr protein kinase family
Tissue Specificity Isoforms 3, 7 and 8 are expressed in cardiac muscle. Isoform 4 is expressed in vertebrate skeletal muscle. Isoform 6 is expressed in skeletal muscle (at protein level).
Database Links

HGNC: 12403

OMIM: 188840

KEGG: hsa:7273

STRING: 9606.ENSP00000343764

UniGene: Hs.134602

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