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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for TNNT1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID7138
Official gene symbolTNNT1
Full nametroponin T type 1 (skeletal, slow)
Aliases,ANM,FLJ98147,MGC104241,STNT,TNT,TNTS,
Gene summaryThis 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]
LocationChromosome: 19   Locus: 19q13.4
Gene position55660606 - 55644161  Map Viewer
Gene orientationminus
Gene size16446 bp
Gene sequence
OMIM ID191041