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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
ACO1 - Aconitase 1
Alias:
IRP1
ACONS
HEL60
IREB1
IREBP
IREBP1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种双功能细胞质蛋白质,在TCA循环中作为必不可少的酶发挥作用,并与mRNA相互作用以控制细胞内的铁水平。当细胞铁水平较高时,该蛋白质与一个4Fe-4S簇结合,并作为aconitase发挥作用。aconitases是铁硫蛋白,用于催化柠檬酸到异柠檬酸的转化。当细胞铁水平较低时,该蛋白质与铁响应元件(IREs)结合,这些元件是存在于铁蛋白mRNA的5'UTR和转铁蛋白受体mRNA的3'UTR中的茎环结构。当蛋白质与IRE结合时,会导致铁蛋白mRNA的翻译抑制,以及转铁蛋白受体mRNA的降解抑制,否则它会迅速降解。该编码蛋白质已被识别为基于其执行机制上不同的功能的能力的兼职蛋白质。替代剪接导致多个转录变异体[由RefSeq,2014年1月提供]
Related ID:
NCBI:48
ENSEMBL:ENSG00000122729
HGNC:117
UNIPROT:P21399
OMIM:100880
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
48
4
21
70127 bp
98.40
38
--
12
18
ACO1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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