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中文人类
CFH - Complement Factor H
Alias:
FH
HF
HF1
HF2
HUS
FHL1
AHUS1
AMBP1
ARMD4
ARMS1
CFHL3
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这个基因是调节补体激活(RCA)基因簇的成员，并编码一个具有二十个短一致重复(SCR)域的蛋白质。这种蛋白质被分泌到血液中，在调节补体激活方面起着至关重要的作用，将这种先天性防御机制限制在微生物感染上。这种基因的突变已被与溶血性尿毒症(HUS)和慢性低补体性肾病相关联。已鉴定出编码不同异构体的转录剪接变体。[由RefSeq提供，2011年10月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CFH 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
