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Genes (16)
Species:
human : 16 | |
| Human | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Asymmetric septal hypertrophy | | Human | MYLK2 | 85366 | myosin light chain kinase 2 | Asymmetric septal hypertrophy | | Human | PRKAG2 | 51422 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit | Familial hypertrophic cardiomyopathy | | Human | TPM1 | 7168 | tropomyosin 1 (alpha) | proposed a hypothesis of pathogenetic changes caused by alpha-tropomyosin mutation Asp(175)Asn in familial hypertrophic cardiomyopathy on basis of changes in Ca(2+) handling as sensitive mechanism to compensate for alterations in sarcomeric structure | | Human | TNNT2 | 7139 | troponin T type 2 (cardiac) | Evidence is shown that the Delta14 mutation of troponin T, as seen in some cases of familial hypertrophic cardiomyopathy, results in stabilization of regulated actin in a more active state In transgenic rats expressing a TnT truncation as models of human familial hypertrophic cardiomyopathy, the force-generating capacity of cycling cross-bridges is impaired, resulting in increased tension-dependent ATP utilization Frataxin and cardiac troponin T gene mutations co-exist in a child with Friedreich ataxia and familial hypertrophic cardiomyopathy different regions of TnT may contribute to the pathogenesis of TnT-linked Familial hypertrophic cardiomyopathy through different mechanisms Troponin T mutations that cause familial hypertrophic cardiomyopathy affect muscle contraction in transgenic mice and reconstituted human cardiac fibers | | Human | TNNI3 | 7137 | troponin I type 3 (cardiac) | TROPONIN I mutations in familial hypertrophic cardiomyopathy affect the regulatory processes involving TROPONIN I and increased the Ca(2+) sensitivity of cardiac muscle contraction Phosphorylation of mutant cardiac troponin I is linked to familial hypertrophic cardiomyopathy Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy Calpain-dependent degradation of troponin I mutants was found in familial hypertrophic cardiomyopathy | | Human | TNNC1 | 7134 | troponin C type 1 (slow) | Asymmetric septal hypertrophy | | Human | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | Asymmetric septal hypertrophy | | Human | NAGLU | 4669 | N-acetylglucosaminidase, alpha | Asymmetric septal hypertrophy | | Human | MYL3 | 4634 | myosin, light chain 3, alkali; ventricular, skeletal, slow | mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations | | Human | MYL2 | 4633 | myosin, light chain 2, regulatory, cardiac, slow | mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations | | Human | MYH7 | 4625 | myosin, heavy chain 7, cardiac muscle, beta | Allelic disorder to familial hypertrophic cardiomyopathy (CMH, {192600}) Mutations in exon 30 and exon 37 linked to familial hypertrophic cardiomyopathy in 4 families Asymmetric septal hypertrophy | | Human | MYH6 | 4624 | myosin, heavy chain 6, cardiac muscle, alpha | Asymmetric septal hypertrophy | | Human | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | Asymmetric septal hypertrophy | | Human | CAV3 | 859 | caveolin 3 | Asymmetric septal hypertrophy | | Human | ACTC1 | 70 | actin, alpha, cardiac muscle 1 | Asymmetric septal hypertrophy |
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