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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
NFKBIA - NFKB Inhibitor Alpha
Alias:
IKBA
MAD-3
NFKBI
EDAID2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个NF-kappa-B抑制子家族的成员,该家族包含多个ankrin重复结构域。编码的蛋白质与REL二聚体相互作用,抑制参与炎症反应的NF-kappa-B/REL复合物。该编码蛋白质通过核定位信号和CRM1介导的核输出在细胞质和核之间移动。这个基因的突变已经发现在具有T细胞免疫缺陷的表皮发育异常多汗症常染色体显性疾病中。[RefSeq提供,2011年8月]
Related ID:
NCBI:4792
ENSEMBL:ENSG00000100906
HGNC:7797
UNIPROT:P25963
OMIM:164008
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4792
1
6
3237 bp
35.61
236
5
9
43
NFKBIA Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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