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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
DAG1 - Dystroglycan 1
Alias:
A3a
DAG
AGRNR
156DAG
MDDGA9
MDDGC7
MDDGC9
LGMDR16
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肌营养不良蛋白,它是连接骨骼肌细胞外基质和细胞骨架的核心成分。编码的前原蛋白经历O-和N-糖基化,并通过蛋白水解加工生成α和β亚基。这个基因中的一些特定突变已知会导致不同类型的肌营养不良。可变剪接导致多个转录变异体,它们都编码相同的蛋白质。[RefSeq,2015年11月提供]
Related ID:
NCBI:1605
ENSEMBL:ENSG00000173402
HGNC:2666
UNIPROT:Q14118
OMIM:128239
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1605
54
3
66668 bp
97.44
613
3
10
40
DAG1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
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
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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