摘要: |
原肌球蛋白(TM)是肌肉收缩过程中重要的调节蛋白质,它以大量异构体形式广泛分布于各种真核细胞中.哺乳动物中的4个TM基因已被确认,分别命名为TPM1、TPM2、TPM3、TPM4,至少可表达出20种TM异构体.TPM1基因突变与家族性肥大性心肌病有关;TPM3基因突变与线状肌病和骨骼肌无力有关. |
关键词: 原肌球蛋白 基因突变 异构体 肌病 |
DOI:10.11724/jdmu.2004.02.26 |
分类号:Q7 |
基金项目: |
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Advances in molecular biological research on tropomyosin |
YANG Jing-xian, LIN Yuan
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Department of Pharmacology, Dalian Medical University, Dalian 116027, China
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Abstract: |
Tropomyosin(TM)was one of the most important regulating pro teins of the muscle contractile system. It was widely distributed in eucaryote cells in a large number of isoforms. So far four TM genes had been identified in mammals ,from which at least 20 isoforms were expressed. The four genes have been named TPM1,TPM2,TPM3 and TPM4. Mutations in TPM1 gene are associated with familia l hypertrophic cardiomyopathy and the mutation in TPM3 gene is associated with nemaline myopathy and weakness of skeletal muscle. |
Key words: tropomyosin genic mutation isoform myopathy |