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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
MYH8 - Myosin Heavy Chain 8
Alias:
DA7
MyHC-pn
gtMHC-F
MyHC-peri
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
肌球蛋白是基于肌动蛋白的电机蛋白质,在真核细胞的机械力产生中起作用。肌肉肌球蛋白是由2个肌球蛋白重链和2对不相等的肌球蛋白轻链组成的六聚体。这个基因编码II类或传统肌球蛋白重链的成员,并在骨骼肌收缩中起作用。这个基因主要在胎儿骨骼肌中表达。这个基因位于染色体17上的肌球蛋白重链基因簇中。这个基因的突变导致三肌-假折指综合征。[由RefSeq,2009年9月提供]
Related ID:
NCBI:4626
ENSEMBL:ENSG00000133020
HGNC:7578
UNIPROT:P13535
OMIM:160741
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4626
1
40
31629 bp
222.76
325
2
3
6
MYH8 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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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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Type
Name
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CAS Number
Status
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Link
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References Literature
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