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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
Ears2 - glutamyl-tRNA synthetase 2, mitochondrial
Alias:
mKIAA1970
3230401I01Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个推测的I类氨基酸酰-tRNA合成酶家族成员。这些酶在蛋白质生物合成中起着关键作用,通过将相应的氨基酸加载到tRNA上。这个蛋白由核基因组编码,但可能导入线粒体,在那里认为它催化谷氨酸与tRNA分子的连接。人类中类似基因的突变与联合氧化磷酸化缺陷12(COXPD12)有关。[RefSeq,2015年3月提供]
Related ID:
NCBI:67417
ENSEMBL:ENSMUSG00000030871
UNIPROT:Q9CXJ1
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
67417
2
9
33052 bp
58.33
4
4
Ears2 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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