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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
大鼠
Aptx - aprataxin
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有水解酶活性,作用于酯键;核酸结合活性;蛋白质N端结合活性。参与DNA修复;蛋白质稳定性的调节;对过氧化氢的响应。在DNA连接上游或内部发挥作用。位于核仁核浆中。在细胞核中活跃。与染色质共同定位。该基因的人类同源物与1型共济失调和眼动失用性橄榄脑桥小脑萎缩有关。与人类APTX(aprataxin)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:259271
ENSEMBL:ENSRNOG00000006582
UNIPROT:Q8K4H4
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
259271
8
9
24068 bp
37.72
6
3
Aptx Genetics information (-)
mRatBN7.2
Sequence Homology
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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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