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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
人类
INSR - Insulin Receptor
Alias:
HHF5
CD220
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种受体酪氨酸激酶家族的蛋白质成员。编码的前原蛋白在蛋白水解过程中被加工成α和β亚基,形成异四聚体受体。胰岛素或其他配体结合到这个受体上,激活胰岛素信号通路,该通路调节葡萄糖的摄取和释放,以及碳水化合物的合成和储存,脂质和蛋白质。这个基因中的突变导致了遗传性严重胰岛素抵抗综合征,包括A型胰岛素抵抗综合征、Donohue综合征和Rabson-Mendenhall综合征。可变剪接产生了多种转录变异体。[RefSeq,2015年10月提供]
Related ID:
NCBI:3643
ENSEMBL:ENSG00000171105
HGNC:6091
UNIPROT:P06213
OMIM:147670
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3643
4
22
182150 bp
156.33
601
7
13
125
INSR Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Link
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References Literature
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