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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
SGCB - Sarcoglycan Beta
Alias:
A3b
SGC
LGMD2E
LGMDR4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肌肌球蛋白家族的一员。肌肌球蛋白是肌营养不良蛋白糖蛋白复合物的跨膜成分,有助于稳定肌肉纤维膜并将肌肉细胞骨架与细胞外基质连接起来。这个基因的突变与臂-腿肌肉营养不良有关。[RefSeq,2008年10月提供]
Related ID:
NCBI:6443
ENSEMBL:ENSG00000163069
HGNC:10806
UNIPROT:Q16585
OMIM:600900
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6443
4
6
17594 bp
34.78
484
7
5
13
SGCB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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Related Drugs
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CAS Number
Status
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Link
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References Literature
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