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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
MRM3 - Mitochondrial RRNA Methyltransferase 3
Alias:
RMTL1
RNMTL1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
有效的线粒体来源的转录本翻译需要线粒体核糖体大亚基的正确组装。这个大型亚基的生物发生中起核心作用的是线粒体16S rRNA的A环,该环被位于mtDNA核小体附近的三个rRNA甲基转移酶修饰。这个基因编码的蛋白质对16S rRNA的G(1370)进行甲基化,这个修饰对于核糖体大亚基的正确组装是必要的。已经在这个基因中发现了编码不同异构体的两个转录变异体。[由RefSeq提供,2015年12月]
Related ID:
NCBI:55178
ENSEMBL:ENSG00000171861
HGNC:18485
UNIPROT:Q9HC36
OMIM:612600
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55178
2
4
10157 bp
47.02
4
--
2
9
MRM3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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