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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
Edn3 - endothelin 3
Alias:
ls
ET-3
PPET3
tmgc48
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因是内皮素家族的成员,其成员编码作用于G蛋白偶联受体的蛋白质。内皮素以大型前原肽前体产生,该前体被亚基青霉蛋白酶丝氨酸蛋白酶切割以形成无活性的中间体,然后被内皮素转换酶1(ECE-1)再次切割,产生具有活性的21个氨基酸肽。这个基因编码一个在神经嵴细胞(NCC)中表达,与内皮素受体b(Ednrb)结合,并在包括黑色素细胞和肠神经元的NCC衍生细胞谱系的发育中起到基本作用的蛋白质。这个基因的突变与小鼠的末端无神经节症和白斑斑纹病以及人类的Hirschsprung病和Waardenburg综合症有关。[由RefSeq,2013年4月提供]
Related ID:
NCBI:13616
ENSEMBL:ENSMUSG00000027524
UNIPROT:P48299
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
13616
1
5
23424 bp
23.32
5
3
Edn3 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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