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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
Ednrb - endothelin receptor type B
Alias:
ETb
ET-B
ET-BR
ETR-b
Sox10m1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码G蛋白偶联受体家族的成员。它编码一种内皮素受体,内皮素是一种参与血管收缩的肽。编码的蛋白质激活磷脂酰肌醇-钙第二信使系统,并进入肠神经元发育和黑色素细胞发育所必需。基因破坏导致色素异常、耳聋和结肠扩张异常,因为神经嵴来源的细胞有缺陷。这个基因的突变可以在白化病小鼠中找到,并且是Hirschsprung病和Waardenburg综合症4型的小鼠模型。肾收集管特异性基因缺失导致钠滞留和高血压。可变剪接导致多个转录变异体。[由RefSeq,2013年1月提供]
Related ID:
NCBI:13618
ENSEMBL:ENSMUSG00000022122
UNIPROT:P48302
Basic Information
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Transcripts
Exons
Length
MW (kDa)
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13618
4
8
31198 bp
49.56
52
3
Ednrb Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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