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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
Dag1 - dystroglycan 1
Alias:
DG
Dp71
Dp427
D9Wsu13e
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码肌营养不良蛋白,这是将细胞外基质与骨骼肌细胞骨架连接起来的肌营养不良蛋白-糖蛋白复合物的中枢成分。编码的前原原蛋白经历O-和N-糖基化,并通过蛋白水解加工生成α和β亚基。在小鼠中编码的蛋白质完全缺失会导致胚胎致死,因为Reichert膜的紊乱。缺乏编码的蛋白质的嵌合小鼠克服了胚胎致死,但发育成进行性肌营养不良。可变剪接导致多个转录变异体,都编码相同的蛋白质。[由RefSeq,2015年11月提供]
Related ID:
NCBI:13138
ENSEMBL:ENSMUSG00000039952
UNIPROT:Q62165
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
13138
10
4
59117 bp
96.91
10
24
Dag1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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