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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
IRAK4 - Interleukin 1 Receptor Associated Kinase 4
Alias:
IPD1
IMD67
REN64
IRAK-4
NY-REN-64
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种激酶,可以在Toll样受体(TLR)和T细胞受体(TCR)信号通路中激活NF-kappa B。该蛋白对大多数天然免疫反应是必不可少的。这个基因的突变导致IRAK4缺陷和反复发生的侵袭性肺炎球菌疾病。已经发现这个基因有多种转录变异体,编码不同的异构体。[RefSeq,2011年8月提供]
Related ID:
NCBI:51135
ENSEMBL:ENSG00000198001
HGNC:17967
UNIPROT:Q9NWZ3
OMIM:606883
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51135
19
12
30591 bp
51.53
289
2
12
38
IRAK4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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