Recombinant Human Troponin T, slow skeletal muscle (TNNT1)

Uniprot Id

P13805

Target Species

Human

Target Name

TNNT1

Target Full Name

Troponin T, slow skeletal muscle

Target 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.

Target Involvement

Nemaline myopathy 5 (NEM5)

Target Protein Families

Troponin T family

Target Synonyms

ANM; MGC104241; NEM5; Skeletal; Slow; slow skeletal muscle; Slow skeletal muscle troponin T; sTnT; Tnnt1; TNNT1_HUMAN; TNT; TnTs; Troponin T; Troponin T slow skeletal muscle; Troponin T type 1 (skeletal slow); troponin T1 skeletal slow; Troponin T1, slow skeletal type

Target Background

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.