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中文人类
CFI - Complement Factor I
Alias:
FI
IF
KAF
AHUS3
ARMD13
C3BINA
C3b-INA
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这个基因编码一种丝氨酸蛋白酶，对调节补体级联是必不可少的。编码的前原蛋白被切割产生重链和轻链，通过二硫键连接形成异源二聚糖蛋白。这个异二聚体可以切割并失活补体成分C4b和C3b，防止C3和C5转换酶的组装。这个基因的缺陷导致补体因子I缺乏，这是一种与化脓性感染易感性有关的常染色体隐性疾病。这个基因的突变与易患非典型溶血性尿毒症综合征（一种以急性肾衰竭、微血管病性溶血性贫血和血小板减少为特征的疾病）的倾向有关。这个基因的突变还与原发性肾小球肾炎（伴有免疫沉积物）和年龄相关性黄斑变性（另一种与这个基因突变相关的疾病）有关。[RefSeq，2015年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CFI Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
