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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
人类
SARS2 - Seryl-tRNA Synthetase 2, Mitochondrial
Alias:
SYS
SARS
SERS
SARSM
SerRS
SerRSmt
mtSerRS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
该基因编码线粒体丝氨酸-tRNA合成酶前体,属于II类tRNA合成酶家族。成熟的酶催化丝氨酸与tRNA(丝)的连接,并参与线粒体内硒代半胱酰-tRNA(sec)的生物合成。该酶含有N-末端tRNA结合结构域和核心催化结构域。它以同源二聚体形式发挥作用,由tRNA结合稳定。该基因受双向启动子调控,也控制线粒体核糖体蛋白S12的表达。两个基因都在常染色体显性耳聋位点DFNA4的关键区段内,可能与这种疾病有关。已发现该基因有多个编码不同异型的转录变异体。[RefSeq,2009年3月提供]
Related ID:
NCBI:54938
ENSEMBL:ENSG00000104835
HGNC:17697
UNIPROT:Q9NP81
OMIM:612804
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54938
2
16
15498 bp
58.28
245
1
2
7
SARS2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Type
Name
MGI
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Mutations
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CAS Number
Status
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Link
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References Literature
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