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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
IDE - Insulin Degrading Enzyme
Alias:
INSULYSIN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种锌金属肽酶,可以降解细胞内的胰岛素,从而终止其活性,并参与细胞间肽信号传导,降解多种肽类如胰高血糖素、淀粉样蛋白、缓激肽和血纤蛋白酶。这种酶对胰岛素的偏好亲和力导致胰岛素介导的对其他肽如β-淀粉样蛋白的降解的抑制。这种蛋白质功能缺陷与阿尔茨海默病和2型糖尿病有关,但该基因的突变尚未被证明是这些疾病的病因。这种蛋白质主要定位在细胞质中,但在某些细胞类型中定位在细胞外空间、细胞膜、过氧化物酶体和线粒体。可选剪接产生多种转录变异体,编码不同的异构体。已描述了其他转录变异体,但尚未经过实验验证。[由RefSeq,2009年9月提供]
Related ID:
NCBI:3416
ENSEMBL:ENSG00000119912
HGNC:5381
UNIPROT:P14735
OMIM:146680
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
3416
17
25
122410 bp
117.97
37
--
5
23
IDE Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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