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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
EDAR - Ectodysplasin A Receptor
Alias:
DL
ED3
ED5
ED1R
EDA3
HRM1
EDA1R
ECTD10A
ECTD10B
EDA-A1R
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肿瘤坏死因子受体家族的一员。编码的跨膜蛋白是可溶性配体ectodysplasin A的受体,可以激活核因子-kappaB、JNK和caspase非依赖的细胞死亡通路。它对于头发、牙齿和其他外胚层衍生物的发育是必需的。这个基因的突变导致常染色体显性和隐性形式的汗腺不足性外胚层发育不良。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10913
ENSEMBL:ENSG00000135960
HGNC:2895
UNIPROT:Q9UNE0
OMIM:604095
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10913
2
12
94750 bp
48.58
278
8
15
16
EDAR 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
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Interactions
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Acting
Regulation
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Reference
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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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