更多...
收起
Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]
[中文简述(自动翻译):]  肌球蛋白是基于肌动蛋白马达蛋白质中的机械力的产生的作用在真核细胞。肌肉肌球蛋白是2肌球蛋白重链和2双不完全相同的肌球蛋白轻链组成heterohexamers。该基因编码II类或常规肌球蛋白重链,和在骨骼肌收缩功能的成员。该基因是在胎儿骨骼肌中表达。该基因在肌球蛋白重链基因簇中发现第17号染色??体在牙关紧闭,pseudocamptodactyly综合征这个基因导致的突变。 [由RefSeq的,2009年09月提供]
MYH8基因(以及对应的蛋白质)的细胞分布位置:
MYH8基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hecht syndrome (disorder) | 0.360814326 | 4 | 1 | BeFree_CTD_human_ORPHANET_UNIPROT |
Carney Complex Variant | 0.36 | 1 | 1 | CTD_human_ORPHANET_UNIPROT |
Arthrogryposis | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Myxoma | 0.00272435 | 1 | 0 | LHGDN |
Congenital clubfoot | 0.002638474 | 2 | 0 | BeFree_GAD |
Distal arthrogryposis syndrome | 0.001628651 | 6 | 0 | BeFree |
Paresis | 0.000542884 | 2 | 0 | BeFree |
Muscle Weakness | 0.000542884 | 2 | 0 | BeFree |
Congenital joint contractures | 0.000542884 | 2 | 0 | BeFree |
Keloid | 0.000271442 | 1 | 4 | BeFree |
Prognathism | 0.000271442 | 1 | 0 | BeFree |
Congenital retrognathism | 0.000271442 | 1 | 0 | BeFree |
Myxoma of the Endocardium | 0.000271442 | 1 | 0 | BeFree |
Retrognathia | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。