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中文人类
DMD - Dystrophin
Alias:
BMD
CMD3B
MRX85
DXS142
DXS164
DXS206
DXS230
DXS239
DXS268
DXS269
DXS270
DXS272
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这个基因的基因组范围大于2Mb，编码一个包含N端肌动蛋白结合结构域和多个谱蛋白重复序列的大蛋白质。编码的蛋白质是肌营养不良蛋白-糖蛋白复合物（DGC）的成分，连接内细胞骨架和细胞外基质。该基因座的缺失、重复和点突变可能导致杜氏肌营养不良症（DMD）、贝克尔肌营养不良症（BMD）或心肌病。替代启动子使用和替代剪接导致这个基因的许多不同转录变异体和蛋白质异构体。[RefSeq,2016年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DMD Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
