TNNT3
Function
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Involvement in disease
Arthrogryposis, distal, 2B2
DA2B2
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. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B2 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the troponin T family.
Tissue Specificity
In fetal and adult fast skeletal muscles, with a higher level expression in fetal than in adult muscle.
Alternative names
TnTf, Beta-TnTF, Fast skeletal muscle troponin T, fTnT, TNNT3