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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
MATR3 - Matrin 3
Alias:
MPD2
ALS21
VCPDM
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种核基质蛋白,被认为可以稳定某些信使RNA物种。这个基因的突变与远端肌病2有关,该病通常包括声带和咽部虚弱。已经发现了包括读穿转录本在内的可变剪接转录本,读穿转录本由上游的小核仁核糖核酸宿主基因4(非编码)和matrin 3基因序列组成。这个基因的假基因位于染色体1和X上。[由RefSeq,2013年8月提供]
Related ID:
NCBI:9782
ENSEMBL:ENSG00000015479
HGNC:6912
UNIPROT:P43243
OMIM:164015
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9782
31
15
57577 bp
94.62
417
4
9
40
MATR3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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Status
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References Literature
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