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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
Eln - elastin
Alias:
E030024M20Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码弹性蛋白,这是一种细胞外基质蛋白,形成包括肺和动脉壁在内的几种组织的主要结构成分。从编码的前体中切割信号肽产生可溶的原弹性蛋白,原弹性蛋白经过赖氨酸衍生的交联形成弹性蛋白聚合物。缺乏编码的蛋白质的小鼠表现出肺发育缺陷,并死于内皮细胞增生和平滑肌细胞重组引起的阻塞性动脉疾病。[RefSeq,2015年8月提供]
Related ID:
NCBI:13717
ENSEMBL:ENSMUSG00000029675
UNIPROT:P54320
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
13717
2
37
44852 bp
71.94
4
5
Eln Genetics information (-)
GRCm39
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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Type
Name
MGI
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References Literature
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IF
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