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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
PON1 - Paraoxonase 1
Alias:
ESA
PON
MVCD5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码对氧磷酶家族的一员,并表现出内酯酶和酯酶活性。在肾脏和肝脏中合成后,该酶被分泌到循环中,与高密度脂蛋白(HDL)颗粒结合,水解硫代内酯和外来物质,包括对氧磷的一种代谢物,对硫磷。这个基因的变异可能与冠状动脉疾病和糖尿病性视网膜病变有关。这个基因位于染色体7上一个由三个相关对氧磷酶基因组成的簇中。[RefSeq,2017年8月提供]
Related ID:
NCBI:5444
ENSEMBL:ENSG00000005421
HGNC:9204
UNIPROT:P27169
OMIM:168820
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5444
1
9
26857 bp
39.73
46
2
4
27
PON1 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
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
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Residues
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Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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