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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
MYH6 - Myosin Heavy Chain 6
Alias:
ASD3
MYHC
SSS3
CMH14
MYHCA
CMD1EE
alpha-MHC
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
心肌肌球蛋白是一种六聚体,由两个重链亚基、两个轻链亚基和两个调节亚基组成。这个基因编码心肌肌球蛋白的α重链亚基。该基因位于编码心肌肌球蛋白β重链亚基的基因下游约4kb处。这个基因的突变导致家族性肥厚性心肌病和房间隔缺损3。[RefSeq提供,2017年2月]
Related ID:
NCBI:4624
ENSEMBL:ENSG00000197616
HGNC:7576
UNIPROT:P13533
OMIM:160710
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4624
1
39
26287 bp
223.74
2068
11
13
11
MYH6 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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