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中文人类
EARS2 - Glutamyl-tRNA Synthetase 2, Mitochondrial
Alias:
MSE1
gluRS
COXPD12
mtGlnRS
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这个基因编码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。这种蛋白质由核基因组编码，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。这个基因的突变与联合氧化磷酸化缺陷12（COXPD12）有关。可选的剪接导致多个转录变异体。[RefSeq，2015年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
EARS2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
