Troponin T, Slow Skeletal Muscle (TNNT1) ELISA Kit for Human

TNNT1: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Defects in TNNT1 are the cause of nemaline myopathy type 5 (NEM5); also known as Amish nemaline myopathy (ANM). A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination. Nemaline myopathy type 5 is a severe and progressive form common among Old Order Amish. 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. Belongs to the troponin T family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Contractile; Motility/polarity/chemotaxis

Cellular Component: troponin complex

Molecular Function: tropomyosin binding; troponin T binding

Biological Process: negative regulation of muscle contraction; regulation of muscle contraction; skeletal muscle contraction; slow-twitch skeletal muscle fiber contraction; transition between fast and slow fiber