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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-B - Major Histocompatibility Complex, Class I, B
Alias:
AS
HLAB
B-4901
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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-B属于HLA I类重链平行系。这个I类分子是一个由重链和轻链(β2微球蛋白)组成的异二聚体,重链位于细胞膜中。I类分子在免疫系统中扮演着核心角色,通过呈现来自内质网腔的肽段。它们在几乎所有细胞中表达。重链约45kDa,其基因包含8个外显子。外显子1编码前导肽,外显子2和3编码与肽结合的alpha1和alpha2结构域,外显子4编码alpha3结构域,外显子5编码跨膜区域,外显子6和7编码胞质尾。外显子2和外显子3中的多态性决定了每个I类分子的肽结合特异性。这些多态性的分型通常用于骨髓和肾脏移植。已经描述了数百种HLA-B等位基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3106
ENSEMBL:ENSG00000234745
HGNC:4932
UNIPROT:P01889
OMIM:142830
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
3106
1
8
3305 bp
40.46
12
7
37
83
HLA-B Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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