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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
IL12RB1 - Interleukin 12 Receptor Subunit Beta 1
Alias:
CD212
IMD30
IL12RB
IL-12R-BETA1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种属于造血素受体超家族的一类I跨膜蛋白质。这种蛋白质以低亲和力与白细胞介素12(IL12)结合,被认为是IL12受体复合物的一部分。这种蛋白质形成由二硫键连接的寡聚物,这是其IL12结合活性所必需的。已证明这种蛋白质和IL12RB2蛋白的共同表达导致高亲和力IL12结合位点的形成和IL12依赖的信号传导的重建。这个基因的突变损害了产生白细胞介素-17的T淋巴细胞的发育,并增加了对分枝杆菌和沙门氏菌感染的易感性。可变剪接产生了多种转录变异体。[RefSeq,2014年2月提供]
Related ID:
NCBI:3594
ENSEMBL:ENSG00000096996
HGNC:5971
UNIPROT:P42701
OMIM:601604
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3594
25
17
39822 bp
73.11
445
2
4
7
IL12RB1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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