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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