Product Overview
Description
CLPP-00151208 is recombinant human TTN protein, Tagged
Protein Length
Protein fragment
Nature
Recombinant Protein
Sequence
RCEEGKDNWIRCNMKLVPELTYKVTGLEKGNKYLYRVSAENKAGVSDPSEILGPLTADDAFVEPTMDLSAFKDGLEVIVPNPITILVPSTGYPRPTATWCFGDKVLETGDRVKMKTLSAYAELVISPSERSDKGIYTLKLENRVKTISGEIDVNVIARPSAPKELKFGDITKDSVHLTWEPPDDDGGSPLTGYVVEKREVSRKTWTKVMDFVTDLEFTVPDLVQGKEYLFKVCARNKCGPGEPAYVDEPVNMSTPATVPDPPENVKWRDRTANSIFLTWDPPKNDGG
Sequence Similarities
Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Contains 132 fibronectin type-III domains. Contains 152 Ig-like (immunoglobulin-like) domains. Contains 19 Kelch repeats. Contains 1 protein kinase domain. Contains 17 RCC1 repeats. Contains 14 TPR repeats. Contains 15 WD repeats.
Predicted Molecular Weight
37 kDa including tags
Target Information
Alternative Names
MPRM; Cardiomyopathy dilated 1G (autosomal dominant); CMD1G; CMH 9; CMH9; CMPD 4; CMPD4; Connectin; DKFZp451N061; EOMFC; FLJ26020; FLJ26409; FLJ32040; FLJ34413; FLJ39564; FLJ43066; HMERF; LGMD2J; MU RMS 40.14; MYLK5; Rhabdomyosarcoma antigen; Rhabdomyosarcoma antigen MU RMS 40.14; Rhabdomyosarcoma antigen MU-RMS-40.14; Titin; TITIN_HUMAN; TMD; TTN
Protein 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.
Tissue Specificity
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.
Involvement in Disease
Defects in TTN are the cause of hereditary myopathy with early respiratory failure (HMERF); 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 familial hypertrophic cardiomyopathy type 9 (CMH9). Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.Defects in TTN are the cause of cardiomyopathy dilated type 1G (CMD1G). 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 tardive tibial muscular dystrophy (TMD); also known as Udd myopathy. TMD is an autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later.Defects in TTN are the cause of limb-girdle muscular dystrophy type 2J (LGMD2J). 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.Defects in TTN are the cause of early-onset myopathy with fatal cardiomyopathy (EOMFC). Early-onset myopathies are inherited muscle disorders that manifest typically from birth or infancy with hypotonia, muscle weakness, and delayed motor development. EOMFC is a titinopathy that, in contrast with the previously described examples, involves both heart and skeletal muscle, has a congenital onset, and is purely recessive. This phenotype is due to homozygous out-of-frame TTN deletions, which lead to a total absence of titin's C-terminal end from striated muscles and to secondary CAPN3 depletion.
Shipping & Handling
Constituents
Tris buffer, 50% Glycerol (glycerin, glycerine).
Shipping
Shipped at 4 °C.
Storage
Store at -20 °C or -80 °C.
