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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
MYOM1 - Myomesin 1
Alias:
SKELEMIN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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巨蛋白 titin 与其相关蛋白共同连接肌节的主要结构,M 带和 Z 带。titin 链的 C 端延伸入 M 线,与分子质量为 190 kD(肌肌蛋白 1)和 165 kD(肌肌蛋白 2)的 M 带成分紧密结合。这种蛋白,肌肌蛋白 1,像肌肌蛋白 2、titin 和其他肌原纤维蛋白一样,含有结构模块,与纤维连接蛋白类型 III(motif I)或免疫球蛋白 C2(motif II)结构域具有强烈的同源性。肌肌蛋白 1 和肌肌蛋白 2 各自具有独特的 N 端区域,然后是以 II-II-I-I-I-I-I-II-II-II-II 排列的 12 个 motif I 或 motif II 模块。这两种蛋白质在包含重复区域的序列一致性为 50%。由这两种蛋白质在 titin 链的一端形成的头部结构延伸入 M 带的中心。肌节的结合结构来自免疫球蛋白样蛋白质超家族的肌特异性成员。已经识别了编码不同异型的替代剪接转录变异体。[由 RefSeq,2008 年 7 月提供]
Related ID:
NCBI:8736
ENSEMBL:ENSG00000101605
HGNC:7613
UNIPROT:P52179
OMIM:603508
Basic Information
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8736
6
38
180570 bp
187.63
1473
--
3
5
MYOM1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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