Gene: [01q32/TNNT2] troponin T2, cardiac; cardiomyopathy, hypertrophic 2 (MIM:115195); [CMH2 ]
COM | The TNNT2 gene was mapped to Chr 1q (Townsend-1994; Thierfelder-1994). Later, with the use of fluorescence in situ hybridization the map position was refined to 1q32 (Mesnard-1995)." |
FUN | Cardiac troponin T (cTnT) is essential for calcium-regulated myofibrillar ATPase activity. cTnT is expressed in the human heart as four isoforms (cTnT1 through cTnT4, numbered in the order of decreasing molecular size). The expression of these isoforms at the protein level has previously been found to differ in the normal and failing adult and fetal human heart (Anderson-1995)." |
REF | CLO,SEQ,EXP "Anderson PAW &: Circ Res, 76, 681-686, 1995 MUT,GEN,PAT "Forissier JF &: Circulation, 94, 3069-3073, 1996 SEQ,COD,EXP,LOC "Mesnard L &: Circ Res, 76, 687-692, 1995 LIN,LOC,MUT,PAT "Thierfelder L &: Cell, 77, 701-712, 1994 CLO,SEQ,EXP,LOC "Townsend PJ &: Genomics, 21, 311-316, 1994 MUT,PAT,HET "Watkins H &: New Engl J Med, 332, 1058-1064, 1995 PAT,LIN,LOC "Watkins H &: Nature Genet, 3, 333-337, 1993 |
SWI | SWISSPROT: P45379 |
KEY | myo, card |
CLA | coding, basic |
LOC | 01 q32 |
MIM | MIM: 191045 |
SYN | CMH2 |
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