Titin [T11]

T11

Full length native protein (purified) (Chicken breast muscle).

Monoclonal Anti-Titin reacts only with skeletal and cardiac muscle but not with smooth muscle non-muscle tissues or cultured cells. The antibody localizes titin (connectin) in skeletal and heart muscle of a wide variety of species from cold-blooded vertebrates to human. This product does not cross-react with nebulin.

acites mg/ml Storage

For IF: Use at a dilution of 1:1 000. Not tested in other applications. Optimal dilutions/concentrations should be determined by the researcher. Monoclonal Anti-Titin can be used for study of the elastic filaments within sarcomeric structures. It is also useful as a differentiation marker in the separation of rhabdomyosarcomas from other muscle tumors. By indirect immunofluorescence the antibody displays a typical striated staining pattern on frozen sections of chicken skeletal and cardiac muscle tissues. Stains the region of the A-I junction by indirect immunofluorescence. It shows a decoration line 0. 05 mm from the end of the A band in electron micro-graphs. In immunoblotting using total extracts of chicken breast muscle the antibody reacts specifically with both bands of the titin doublet and showed no reaction with nebulin.

ATP + a protein = ADP + a phosphoprotein. Cofactor: Magnesium.

Interacts with MYOM1 MYOM2 tropomyosin and myosin. Interacts with actin primarily via the PEVK domains and with MYPN (By similarity). Interacts with FHL2 NEB CRYAB LMNA/lamin-A and LMNB/lamin-B. Interacts with TCAP/telethonin and/or ANK1 isoform Mu17/ank1. 5 via the first two N-terminal immunoglobulin domains. Interacts with TRIM63 and TRIM55 through several domains including immunoglobulin domains 141 and 142. Interacts with ANKRD1 ANKRD2 and ANKRD23 via the region between immunoglobulin domains 77 and 78 and interacts with CAPN3 via immunoglobulin domain 79. Interacts with NBR1 through the protein kinase domain. Interacts with CALM/calmodulin. Isoform 8 interacts with OBSCN isoform 3.

Isoform 3 isoform 7 and isoform 8 are expressed in cardiac muscle. Isoform 4 is expressed in vertebrate skeletal muscle. Isoform 6 is expressed in cardiac tissues.

The PEVK region may serve as an entropic spring of a chain of structural folds and may also be an interaction site to other myofilament proteins to form interfilament connectivity in the sarcomere.

Defects in TTN are the cause of hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]; also known as Edstrom myopathy. HMERF is an autosomal dominant adult-onset myopathy with early respiratory muscle involvement.

Defects in TTN are the cause of cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Defects in TTN are the cause of limb-girdle muscular dystrophy type 2J (LGMD2J) [MIM:608807]. LGMD2J is an autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset.

In some isoforms after the PEVK repeat region there is a long PEVK duplicated region. On account of this region it has been very difficult to sequence the whole protein. The length of this region (ranging from 183 to 2174 residues) may be a key elastic element of titin.

Contains 132 fibronectin type-III domains.

Contains 19 Kelch repeats.

Contains 17 RCC1 repeats.

Contains 15 WD repeats.