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中文人类
LARS1 - Leucyl-tRNA Synthetase 1
Alias:
LRS
LARS
LEUS
LFIS
ILFS1
LEURS
PIG44
RNTLS
HSPC192
hr025Cl
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这个基因编码一个胞质白氨酸-tRNA合成酶，属于I类氨基酸酰-tRNA合成酶家族。编码的酶催化L-亮氨酸与tRNA(Leu)的ATP依赖性连接。它作为多合成酶复合物的一部分存在于细胞质中，并通过其C-末端结构域与精氨酸tRNA合成酶相互作用。在这个基因中发现的突变影响患有婴儿肝衰竭综合症1的患者。已经观察到了这个基因的可变剪接转录变异体。[RefSeq提供，2015年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LARS1 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
