TNNT1 gene

troponin T1, slow skeletal type


From NCBI 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]

From UniProt:


Covered on Genetics Home Reference:

From NCBI Gene:

  • Nemaline myopathy 5

From UniProt:

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. [MIM:605355]

Cytogenetic Location: 19q13.42, which is the long (q) arm of chromosome 19 at position 13.42

Molecular Location: base pairs 55,132,698 to 55,149,354 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

  • ANM
  • NEM5
  • STNT
  • TNT
  • TNTS