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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
HLA-DRB1 - Major Histocompatibility Complex, Class II, DR Beta 1
Alias:
SS1
DRB1
HLA-DRB
HLA-DR1B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
HLA-DRB1属于HLA II类β链平行基因。II类分子是一个由α(DRA)和β链(DRB)组成的核心异二聚体,两者都固定在膜上。它通过呈现来自细胞外蛋白的肽来在免疫系统中发挥核心作用。II类分子在抗原呈递细胞中表达。β链约为26-28 kDa。它由6个外显子编码。外显子1编码前导肽;外显子2和3编码两个细胞外结构域;外显子4编码跨膜结构域;外显子5编码胞质尾。在DR分子中,β链包含指定肽结合特异性的所有多态性。已经描述了数百种DRB1等位基因,并且某些等位基因与特定疾病或病状的相关频率增加。例如,DRB1*1302与乙型和慢性肝炎病毒的持续存在有关。该基因的多个假基因已被描述。[由RefSeq,2020年7月提供]
Related ID:
NCBI:3123
ENSEMBL:ENSG00000196126
HGNC:4948
UNIPROT:P01911
OMIM:142857
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3123
1
6
11074 bp
29.97
21
13
8
77
HLA-DRB1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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