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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
CFB - Complement Factor B
Alias:
BF
FB
BFD
GBG
CFAB
CFBD
PBF2
AHUS4
FBI12
H2-Bf
ARMD14
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码补体因子B,是补体激活途径中的替代途径的组成部分。因子B在血液中以单链多肽的形式循环。在替代途径激活后,它被补体因子D切割,产生非催化链Ba和催化亚单位Bb。活性亚单位Bb是一种丝氨酸蛋白酶,与C3b结合形成替代途径的C3转换酶。Bb参与预激活B淋巴细胞的增殖,而Ba抑制其增殖。这个基因位于染色体6上的主要组织相容性复合体(MHC)III类区域。这个集群包括几个参与免疫反应调节的基因。这个基因的多态性与年龄相关性黄斑变性的风险降低相关。这个基因的聚腺苷酸化位点位于补体成分2基因的5'端的421 bp处。[由RefSeq,2008年7月提供]
Related ID:
NCBI:629
ENSEMBL:ENSG00000243649
HGNC:1037
UNIPROT:P00751
OMIM:138470
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
629
1
18
5990 bp
85.53
348
4
8
25
CFB Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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Status
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