Gene: [19^/TNNI3] troponin I3, cardiac; hypertrophic cardiomyopathy type VII (CMH7); [CMH7 ]
COM | MacGeoch-1991 and Bermingham-1995, who referred to the gene by the symbol TNNC1, mapped the cardiac troponin-I gene locus to Chr 19p13.2-q13.2 and 19q13.3-q13.4, respectively." |
FUN | Troponin I is a constituent protein of the troponin complex (see on it in FAM:TNN/00.0) located on the thin filament of striated muscle that provides a calcium-sensitive switch for striated muscle contraction. Unlike other contractile proteins, the cardiac isoform of troponin I is expressed only in cardiac muscle and therefore offers a model for cardiac-specific expression. It is also subject to developmental regulation with increased expression occurring at the time of birth (Bhavsar-1996)." |
GEN | The gene length: 6.2 kb; exons: 8 (Bhavsar-1996). |
MUT | Kimura et al. found 3 mutations in the cardiac TNNI3 gene in several patients with hypertrophic cardiomyopathy (HCM; CMH7) (Kimura-1997)." |
PAT | Affected individuals with 3 mutations in the TNNI3 gene had ventricular hypertrophy characteristic of hypertrophic cardiomyopathy, while those with 2 other mutations showed cardiac hypertrophy only at the apex. A man with a sixth type of mutation had apical hypertrophy, while his son with the same mutation had typical CMH. Although apical CMH has been associated particularly with CMH4, 3 of 36 (8.3%) patients with apical CMH had mutations in the TNNI3 gene (Kimura-1997)." |
REF | LOC,FAG,EAG "Bermingham N &: Genomics, 30,
620-622, 1995 FUN,SEQ,EVO "Bhavsar PK &: Genomics, 35, 11-23, 1996 MUT,PAT,FOG "Kimura A &: Nature Genet, 16, 379-382, 1997 LOC "MacGeoch C &: Hum Genet, 88, 101-104, 1991 COD,SEQ "Vallins WJ &: FEBS Lett, 270, 57-61, 1990 |
SWI | SWISSPROT: P19429 |
KEY | myo, card |
CLA | coding, basic |
LOC | 19 p13.2-q13.2 |
MIM | MIM: 191044 |
SYN | CMH7 |
