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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
MYH7 - Myosin Heavy Chain 7
Alias:
CMH1
MPD1
SPMD
SPMM
CMD1S
MYHCB
CMYP7A
CMYP7B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
肌球蛋白是含有2个重链亚基、2个碱轻链亚基和2个调节轻链亚基的六聚体蛋白质。这个基因编码心脏肌球蛋白的β(或慢速)重链亚基。它主要在正常人心中表达。它也在富含慢速I型肌纤维的骨骼肌组织中表达。这种蛋白质相对丰度的变化与心脏肌肉的收缩速度相关。其表达在甲状腺激素耗竭和血流动力学过载期间也会改变。这个基因的突变与家族性肥厚性心肌病、肌球蛋白储存性肌病、扩张型心肌病和Laing远端肌病有关。[RefSeq,2022年5月提供]
Related ID:
NCBI:4625
ENSEMBL:ENSG00000092054
HGNC:7577
UNIPROT:P12883
OMIM:160760
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4625
2
40
22921 bp
223.10
4049
22
8
89
MYH7 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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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
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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
No data available
References Literature
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Journal
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No Data Found!
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