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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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人类
HLA-A - Major Histocompatibility Complex, Class I, A
Alias:
HLAA
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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-A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)组成的异源二聚体,重链锚定在膜上。I类分子在免疫系统中扮演着中心角色,通过呈现来自内质网腔的肽段,使它们能被细胞毒性T细胞识别。它们在几乎所有的细胞中表达。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中的多态性负责每个I类分子的肽结合特异性。对这些多态性的分型是常规进行的骨髓和肾脏移植。已描述了超过6000个HLA-A等位基因。HLA系统在包括由疟原虫引起的疾病、人类免疫缺陷病毒(HIV)和严重急性呼吸综合症冠状病毒(SARS-CoV)在内的感染性疾病的发生和结果中起着重要作用。已报道,导致2019年冠状病毒病(COVID-19)的新型冠状病毒SARS-CoV-2的结构棘突蛋白和核衣壳蛋白包含多个具有预测的HLA限制的I类表位。人群中的个体HLA遗传变异可能有助于解释对病毒的不同免疫反应。[RefSeq,2020年8月提供]
Related ID:
NCBI:3105
ENSEMBL:ENSG00000206503
HGNC:4931
UNIPROT:P04439
OMIM:142800
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
3105
1
8
3339 bp
40.84
9
2
24
105
HLA-A Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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