TNNT1 Polyclonal Antibody

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.,