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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
PXDN - Peroxidasin
Alias:
PXN
VPO
MG50
PRG2
ASGD7
COPOA
D2S448
D2S448E
hsPxd01
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这种基因编码一种含有血红素的过氧化物酶,可分泌到细胞外基质中。它参与细胞外基质形成,可能在纤维性肾病的生理和病理纤维化反应中发挥作用。该基因的突变导致角膜浑浊和其他眼异常,以及小眼症和前节发育异常。[RefSeq,2014年8月提供]
Related ID:
NCBI:7837
ENSEMBL:ENSG00000130508
HGNC:14966
UNIPROT:Q92626
OMIM:605158
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7837
5
23
113015 bp
165.28
363
3
5
23
PXDN 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
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Abundance
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Interactions
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Acting
Regulation
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Reference
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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