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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
LILRB3 - Leukocyte Immunoglobulin Like Receptor B3
Alias:
HL9
ILT5
LIR3
PIRB
CD85A
ILT-5
LIR-3
PIR-B
LILRA6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是白细胞免疫球蛋白样受体(LIR)家族的成员,位于染色体19q13.4区域的基因簇中。编码的蛋白质属于LIR受体B类亚家族,包含两个或四个细胞外免疫球蛋白结构域,一个跨膜结构域,以及两个到四个细胞质免疫受体酪氨酸抑制基序(ITIMs)。受体在免疫细胞上表达,与抗原呈递细胞上的MHC I类分子结合,并传递负信号,抑制免疫反应的刺激。它被认为控制炎症反应和细胞毒性,以帮助聚焦免疫反应并限制自体反应性。已发现这个基因的多个转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:11025
ENSEMBL:ENSG00000204577
HGNC:6607
UNIPROT:O75022
OMIM:604820
Basic Information
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Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
11025
9
13
6730 bp
Unknown
39
--
6
1
LILRB3 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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