Aliases for TNNT1 Gene
External Ids for TNNT1 Gene
Previous GeneCards Identifiers for TNNT1 Gene
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, Jul 2008]
GeneCards Summary for TNNT1 Gene
TNNT1 (Troponin T Type 1 (Skeletal, Slow)) is a Protein Coding gene. Diseases associated with TNNT1 include tnnt1-related nemaline myopathy and nemaline myopathy 5, amish type. Among its related pathways are Striated Muscle Contraction. GO annotations related to this gene include tropomyosin binding and troponin T binding. An important paralog of this gene is TNNT3.
UniProtKB/Swiss-Prot for TNNT1 Gene
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity