基因名称(Gene Name)
TNNT1 TNT
蛋白名称
Troponin T, slow skeletal muscle (TnTs) (Slow skeletal muscle troponin T) (sTnT)
免疫原
Synthesized peptide derived from part region of human protein
特异性
TNNT1 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Ju
功能
disease:Defects in TNNT1 are the cause of nemaline myopathy type 5 (NEM5) [MIM:605355]; also known as Amish nemaline myopathy (ANM) [MIM:605355]. This form of nemaline myopathy (NEM) is common among Old Order Amish with an incidence of approximately 1:500. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year. A nucleotide replacement in exon 11 causes the protein to be truncated after residue 178.,function:Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.,similarity:Belongs to the troponin T family.,
