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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
TNFRSF1A - TNF Receptor Superfamily Member 1A
Alias:
FPF
p55
p60
TBP1
TNF-R
TNFAR
TNFR1
p55-R
CD120a
TNFR55
TNFR60
TNF-R-I
TNF-R55
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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TNF受体超家族蛋白质的一员。编码的受体存在于膜结合和可溶形式中,分别与其配体肿瘤坏死因子α的膜结合和可溶形式相互作用。膜结合的肿瘤坏死因子α与膜结合受体的结合会诱导受体三聚化并激活,这在细胞生存、凋亡和炎症中起作用。编码受体的蛋白水解加工导致受体的可溶形式释放,其可以与游离的肿瘤坏死因子α相互作用以抑制炎症。这个基因的突变导致肿瘤坏死因子受体相关周期性综合征(TRAPS),以发热、腹痛和其他特征为特征。这个基因的突变可能与人类患者的多发性硬化症有关。[RefSeq,2016年9月提供]
Related ID:
NCBI:7132
ENSEMBL:ENSG00000067182
HGNC:11916
UNIPROT:P19438
OMIM:191190
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7132
3
10
13306 bp
50.49
468
5
23
36
TNFRSF1A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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No data available
* 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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