| Primary Identifier | IPR027708 | Type | Family |
| Short Name | Tnnt3 |
| description | The troponin (Tn) complex regulates calcium-induced muscle contraction. Tn contains three subunits, Ca2 binding (TnC), inhibitory (TnI), and tropomyosin binding (TnT), which is required for Ca(2)-mediated activation of actomyosin ATPase activity [, ]. Three different troponin T genes that encode tissue-specific isoforms of subunit T have been found in mammals and birds, encoding cardiac (TNNT2), slow (TNNT1), and fast (TNNT3) skeletal muscle TnT isoforms [, , , ].This entry represents the fast (TNNT3) skeletal muscle TnT isoform. Defects in TNNT3 are a cause of distal arthrogryposis type 2B (DA2B); also known as arthrogryposis multiplex congenita, distal, type 2B (AMCD2B) []. |
