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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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人类
IFIH1 - Interferon Induced With Helicase C Domain 1
Alias:
AGS7
Hlcd
MDA5
IMD95
MDA-5
RLR-2
IDDM19
SGMRT1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
IFIH1编码MDA5,MDA5是病毒RNA的细胞内传感器,能触发先天免疫反应。MDA5能感知RNA的长度和二级结构,结合dsRNA寡核苷酸,具有修饰的DExD/H-box螺旋酶核心和C端结构域,从而引发包括干扰素在内的促炎反应。已证实冠状病毒(CoVs)以及其他病毒家族能逃避MDA5依赖的干扰素反应,从而阻碍对感染的先天免疫反应。MDA5在增强疟疾感染中自然杀伤细胞功能方面发挥重要作用。除了其在抗病毒反应中的保护作用外,MDA5还与自身免疫和自身炎症疾病如1型糖尿病、系统性红斑狼疮和Aicardi-Goutieres综合征有关[由RefSeq,2020年7月提供]
Related ID:
NCBI:64135
ENSEMBL:ENSG00000115267
HGNC:18873
UNIPROT:Q9BYX4
OMIM:606951
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
64135
2
16
51611 bp
116.69
1138
6
10
54
IFIH1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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