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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
TPM1 - Tropomyosin 1
Alias:
CMH3
TMSA
CMD1Y
LVNC9
C15orf13
HEL-S-265
HTM-alpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是原肌球蛋白家族的一员,原肌球蛋白家族是高度保守的、广泛分布的肌动蛋白结合蛋白质,涉及横纹肌和平滑肌的收缩系统以及非肌细胞的细胞骨架。原肌球蛋白由两个α-螺旋链以螺旋-螺旋方式排列组成。它沿着肌动蛋白丝的两条沟以端对端的方式聚合,为丝状物提供稳定性。所编码的蛋白质是形成横纹肌中主要原肌球蛋白的一种α-螺旋链类型,在那里它还与肌钙蛋白复合物结合,以调节肌动蛋白和肌球蛋白在肌肉收缩过程中的钙依赖性相互作用。在平滑肌和非肌细胞中,描述了编码一系列异构体的替代剪接转录变异体。这个基因的突变与3型家族性肥厚性心肌病和扩张型心肌病1Y有关。[由RefSeq提供,2022年6月]
Related ID:
NCBI:7168
ENSEMBL:ENSG00000140416
HGNC:12010
UNIPROT:P09493
OMIM:191010
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
7168
41
10
29169 bp
32.71
749
7
7
27
TPM1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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