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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
MYH11 - Myosin Heavy Chain 11
Alias:
AAT4
FAA4
SMHC
SMMHC
VSCM2
SMMS-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种属于肌球蛋白重链家族的平滑肌肌球蛋白。基因产物是六聚蛋白质的一个亚基,该六聚蛋白质由两个重链亚基和两对不相等的轻链亚基组成。它作为主要的收缩蛋白,通过水解ATP将化学能转化为机械能。涉及这个基因的染色体重排与M4Eo亚型的急性粒细胞白血病有关。这个基因的突变与内脏性肌病、巨膀胱-小肠蠕动不足综合征2和家族性胸主动脉瘤4有关。[由RefSeq提供,2022年5月]
Related ID:
NCBI:4629
ENSEMBL:ENSG00000133392
HGNC:7569
UNIPROT:P35749
OMIM:160745
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4629
4
41
153894 bp
227.34
2625
8
12
17
MYH11 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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