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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
TNFRSF13C - TNF Receptor Superfamily Member 13C
Alias:
BAFFR
CD268
CVID4
BAFF-R
BROMIX
prolixin
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
B细胞激活因子(BAFF)在体外增强B细胞存活,并作为外周B细胞群落的调节者。在小鼠中过表达BAFF会导致成熟B细胞增生过度和系统性红斑狼疮(SLE)的症状。此外,一些SLE患者的血清中BAFF水平升高。因此,有研究表明,异常高水平的BAFF可能通过增强自身反应B细胞的存活来参与自身免疫性疾病的病理发生。这个基因编码的蛋白质是BAFF的受体,是一种含有单个细胞外富含半胱氨酸结构的III型跨膜蛋白。据认为,这个受体是BAFF介导的成熟B细胞存活所需的主要受体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:115650
ENSEMBL:ENSG00000159958
HGNC:17755
UNIPROT:Q96RJ3
OMIM:606269
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
115650
1
3
4775 bp
18.86
125
3
8
12
TNFRSF13C Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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