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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
C1QTNF5 - C1q And TNF Related 5
Alias:
MFRP
CTRP5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个家族蛋白质成员,这些蛋白质作为基底膜的组成部分发挥作用,可能参与细胞粘附。这个基因的突变与晚发性视网膜变性有关。这个蛋白质可能由一个包括上游膜frizzled相关蛋白基因(MFRP)序列的双顺反子转录本编码,也可能由一个从内部启动子表达的单顺反子转录本编码。[RefSeq提供,2013年6月]
Related ID:
NCBI:114902
ENSEMBL:ENSG00000223953
HGNC:14344
UNIPROT:Q9BXJ0
OMIM:608752
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
114902
2
3
7764 bp
25.30
736
4
5
8
C1QTNF5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Interactions
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Acting
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Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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