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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-F - Major Histocompatibility Complex, Class I, F
Alias:
HLAF
CDA12
HLA-5.4
HLA-CDA12
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于HLA I类重链副系。它编码一个非经典的重链,与β2微球蛋白轻链形成异二聚体,重链锚定在膜上。与大多数其他HLA重链不同,这个分子位于内质网和高尔基体中,而在某些细胞类型中,在细胞表面只有少量存在。它包含一个不同的肽结合沟,被认为结合有限的一组肽以进行免疫呈递。这个基因展示出很少的多态性。已经发现这个基因的多个转录变异体,编码不同的异构体。由于剪接受体位点的改变,这些变异体缺乏在其他HLA副系转录物中发现的编码外显子,导致细胞质结构域缩短。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3134
ENSEMBL:ENSG00000204642
HGNC:4963
UNIPROT:P30511
OMIM:143110
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3134
11
7
15099 bp
39.06
2
--
30
19
HLA-F Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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