Molecular weight (DA)
18kD
Immunogen
Synthesized peptide derived from part region of human protein
Specificity
TELT Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
titin-cap(TCAP) Homo sapiens 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. This gene encodes a protein 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. [provided by RefSeq, Jul 2008],
Function
disease:Defects in TCAP are a cause of cardiomyopathy familial hypertrophic (CMH) [MIM:192600]; also designated FHC or HCM. 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.,disease:Defects in TCAP are a cause of limb-girdle muscular dystrophy type 2G (LGMD2G) [MIM:601954]. LGMD2G is an autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is
Protein name
Telethonin (Titin cap protein)
Human protein sequence Database
O15273
Mouse protein sequence database
O70548
Rat protein sequence database
Cellular localization
Cytoplasm, myofibril, sarcomere .
Tissue expression
Heart and skeletal muscle.
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