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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
MYL2 - Myosin Light Chain 2
Alias:
MLC2
CMH10
MFM12
MLC-2
MLC-2v
MLC-2s/v
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种主要的肌节蛋白,存在于哺乳动物的横纹肌中。编码的蛋白质在胚胎心脏肌肉的结构和功能中发挥作用,同时编码蛋白质的磷酸化与成年心脏肌动蛋白循环动力学、扭转和功能有关。这个基因的突变与肥厚性心肌病10和婴儿发作性肌病有关。[RefSeq,2022年5月提供]
Related ID:
NCBI:4633
ENSEMBL:ENSG00000111245
HGNC:7583
UNIPROT:P10916
OMIM:160781
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4633
3
7
10605 bp
18.79
482
7
9
16
MYL2 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
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Alphabetical
Cell-specific RNA expression
Organ
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Interactions
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Regulation
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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
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IF
No Data Found!
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