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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
大鼠
Mtm1 - myotubularin 1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测具有中间丝结合活性;磷酸酶活性;和磷脂酰肌醇结合活性。参与几个过程,包括脱磷酸化;线粒体组织;和肌肉细胞细胞内稳态。在细胞内信号传导的负调控的上游或内部发挥作用;蛋白酶体泛素依赖性蛋白分解过程的负调控;和骨骼肌组织生长的正调控。位于几个细胞组件中,包括I带;晚内质网;和ruffle。在细胞质和质膜中活跃。该基因的人类同源物与X连锁核中央肌病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:288762
ENSEMBL:ENSRNOG00000002516
UNIPROT:Q6AXQ4
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
288762
2
15
17960 bp
69.35
9
1
Mtm1 Genetics information (-)
mRatBN7.2
Sequence Homology
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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References Literature
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IF
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