TNNT1

TNNT1 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.

Full Name

Troponin T1, Slow Skeletal Type

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.

Biological Process

Biological Process muscle contraction Source:GO_Central1 Publication
Biological Process negative regulation of muscle contraction Source:UniProtKB1 Publication
Biological Process sarcomere organization Source:GO_Central1 Publication
Biological Process skeletal muscle contraction Source:UniProtKB1 Publication
Biological Process slow-twitch skeletal muscle fiber contraction Source:GO_Central1 Publication
Biological Process transition between fast and slow fiber Source:Ensembl

Cellular Location

cytosol
troponin complex

Involvement in disease

Nemaline myopathy 5 (NEM5):
A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped 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.