MGP Database

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MGP003166

UniProt Annotations

Entry Information
Gene Nametroponin T type 1 (skeletal, slow)
Protein EntryTNNT1_HUMAN
UniProt IDP13805
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P13805-1; Sequence=Displayed; Name=2; IsoId=P13805-2; Sequence=VSP_006639, VSP_006640; Name=3; IsoId=P13805-3; Sequence=VSP_006640;
DiseaseNemaline myopathy 5 (NEM5) [MIM:605355]: 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. {ECO:0000269|PubMed:10952871}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTroponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Sequence CautionSequence=AAH22086.2; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the troponin T family. {ECO:0000305}.
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