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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
Ttn - titin
Alias:
L56
mdm
shru
1100001C23Rik
2310036G12Rik
2310057K23Rik
2310074I15Rik
D330041I19Rik
D830007G01Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活ankyrin结合活性。参与心脏肌肉松弛的调节。在几个过程的上游或内部发挥作用,包括脊索动物胚胎发育;向前移动;和心脏发育。位于M带和Z盘。在几个结构中表达,包括膈肌;胚胎间充质;心脏;肌肉;和跗关节。用于研究常染色体隐性四肢带肌营养不良2J;扩张型心肌病1G;和胫骨肌营养不良。这个基因的人类同源物涉及内在心肌病(多种)和肌病(多种)。与人类TTN(肌联蛋白)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:22138
ENSEMBL:ENSMUSG00000051747
UNIPROT:A2ASS6
Basic Information
NCBI
Transcripts
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Length
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22138
15
349
278578 bp
Unknown
22
10
Ttn Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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