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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
小鼠
Mtm1 - X-linked myotubular myopathy gene 1
Alias:
Mtm
mKIAA4176
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够实现中间丝结合活性;磷酸酶活性;和磷脂酰肌醇结合活性。参与线粒体分布;线粒体形态发生;和肌肉细胞细胞内稳态。在细胞代谢过程的负调控;细胞内信号传导的负调控;和骨骼肌组织生长的正调控的上游或内部发挥作用。位于I带。在躯干不分节的中胚层表达。用于研究核周肌病。这个基因的人类同源物与核周肌病X连锁和先天性结构肌病有关。与人类MTM1(myotubularin 1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:17772
ENSEMBL:ENSMUSG00000031337
UNIPROT:Q9Z2C5
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
17772
10
15
104647 bp
69.56
9
14
Mtm1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
Length(nt)
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Protein
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* This data comes from NCBI.
Gene Expression
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Name
MGI
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