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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
CFHR1 - Complement Factor H Related 1
Alias:
H36
CFHL
FHR1
HFL1
HFL2
CFHL1
FHL-1
FHR-1
H36-1
H36-2
CFHL1P
CFHR1P
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码属于补体因子H蛋白家族的一种分泌蛋白。它与plasminogen一起结合到Pseudomonas aeruginosa延伸因子Tuf上,后者被蛋白酶激活。推测Tuf通过将宿主蛋白获取到病原体表面,控制补体,促进组织入侵,作为毒性因子发挥作用。这个基因的突变与典型溶血性尿毒综合征的风险增加有关。[由RefSeq在2009年10月提供]
Related ID:
NCBI:3078
ENSEMBL:ENSG00000244414
HGNC:4888
UNIPROT:Q03591
OMIM:134371
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3078
8
6
12459 bp
37.65
80
4
2
13
CFHR1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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No data available
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Status
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Link
No data available
References Literature
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No Data Found!
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