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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
CR1 - Complement C3b/C4b Receptor 1 (Knops Blood Group)
Alias:
KN
C3BR
C4BR
CD35
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是补体激活受体(RCA)家族的成员,位于染色体1的“RCA簇”区域。基因组在这个位置是多态性的,具有基于长同源重复(LHRs)存在/缺失的等位基因特异性的剪接变异,编码不同的异构体。该基因编码一种在红细胞、白细胞、肾小球足细胞和脾结节树突状细胞上发现的单体Ⅰ型通过型膜糖蛋白。Knops血型系统是位于该蛋白质上的抗原系统。该蛋白介导与已激活补体的粒子和小分子免疫复合物的细胞结合。这个基因的表达减少和/或该基因的突变与胆囊癌、肾毛细血管肾炎、系统性红斑狼疮、结节病和阿尔茨海默病有关。这个基因的突变还与减少Plasmodium falciparum rosetting有关,从而对抗严重疟疾提供保护。[RefSeq,2020年5月提供]
Related ID:
NCBI:1378
ENSEMBL:ENSG00000203710
HGNC:2334
UNIPROT:P17927
OMIM:120620
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
1378
1
47
145609 bp
223.66
74
1
6
22
CR1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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