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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
IKBKG - Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma
Alias:
IP
IP1
IP2
FIP3
IKKG
IPD2
NEMO
FIP-3
Fip3p
IMD33
SAIDX
AMCBX1
EDAID1
IKKAP1
ZC2HC9
IKK-gamma
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码抑制kappaB激酶(IKK)复合物的调节亚单位,该复合物激活NF-kappaB,导致参与炎症、免疫、细胞存活和其他途径的基因激活。这个基因的突变导致色素失禁、无汗性外胚层发育不良和几种其他类型的免疫缺陷。与这个位点高度相似的假基因位于X染色体的一个相邻区域。[RefSeq,2016年3月提供]
Related ID:
NCBI:8517
ENSEMBL:ENSG00000269335
HGNC:5961
UNIPROT:Q9Y6K9
OMIM:300248
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8517
10
10
23809 bp
48.20
160
10
12
84
IKBKG Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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