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中文人类
SGCA - Sarcoglycan Alpha
Alias:
ADL
DAG2
50DAG
DMDA2
LGMD2D
LGMDR3
SCARMD1
adhalin
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这个基因编码一种肌营养不良蛋白-糖蛋白复合物（DGC）的成分，该复合物对肌肉纤维膜的稳定性和将肌动蛋白细胞骨架与细胞外基质连接起来至关重要。其表达被认为仅限于横纹肌。这个基因的突变导致2D型常染色体隐性四肢带肌营养不良。已发现这个基因有多个编码不同异型的转录变异体。[RefSeq,2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SGCA 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
