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MGP003164

UniProt Annotations

Entry Information
Gene Nametroponin I type 2 (skeletal, fast)
Protein EntryTNNI2_HUMAN
UniProt IDP48788
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48788-1; Sequence=Displayed; Name=2; IsoId=P48788-2; Sequence=VSP_046052; Note=No experimental confirmation available.;
DiseaseArthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. {ECO:0000269|PubMed:12592607}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTroponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
SimilarityBelongs to the troponin I family. {ECO:0000305}.
SubunitBinds to actin and tropomyosin.
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