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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
MYPN - Myopalladin
Alias:
MYOP
RCM4
CMH22
NEM11
CMD1DD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
脊椎动物中的横纹肌包含大型蛋白质,这些蛋白质必须正确组织以有效地收缩。横纹肌中的Z线是这种组织的标志,代表肌动蛋白细丝末端、肌联蛋白、肌球蛋白或肌球蛋白以及结构和功能所需的其他辅助蛋白质。该基因编码一种在骨骼肌中与肌球蛋白相互作用或在心肌中与α-肌动蛋白相互作用的蛋白质。此外,该基因产物可以与具有I带标记的蛋白质相互作用,表明它具有调节和结构功能。可选的剪接导致多个转录变异体。[由RefSeq,2011年12月提供]
Related ID:
NCBI:84665
ENSEMBL:ENSG00000138347
HGNC:23246
UNIPROT:Q86TC9
OMIM:608517
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84665
10
20
124121 bp
145.26
1449
6
5
16
MYPN Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
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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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Type
Name
MGI
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Mutations
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Name
CAS Number
Status
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Link
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References Literature
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