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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
小鼠
Aptx - aprataxin
Alias:
FHA-HIT
2410016G21Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
5'-腺苷酸单磷酸水解酶活性激活因子。参与单链断裂修复。在DNA连接上游或内部发挥作用。预测位于核仁核质中。预测在细胞核中活性。预测与染色质共定位。在包括大脑、心血管系统、生殖泌尿系统、肠道和呼吸系统在内的几个结构中表达。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:66408
ENSEMBL:ENSMUSG00000028411
UNIPROT:Q7TQC5
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
66408
13
8
21129 bp
38.72
6
6
Aptx Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
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Cell-specific RNA expression
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Acting
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Type
Name
MGI
Strain of Origin
Publications
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References Literature
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