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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
SGCG - Sarcoglycan Gamma
Alias:
A4
MAM
DMDA
SCG3
35DAG
DAGA4
DMDA1
LGMD2C
LGMDR5
SCARMD2
gamma-SG
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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γ-肌纤蛋白,是与抗肌萎缩蛋白相互作用的几种肌膜跨膜糖蛋白之一。抗肌萎缩蛋白-糖蛋白复合物(DGC)横跨肌膜,由抗肌萎缩蛋白、syntrophin、α-和β-抗肌萎缩糖蛋白以及肌纤蛋白组成。DGC在肌膜下细胞骨架和肌肉细胞细胞外基质之间提供结构连接。编码蛋白的缺陷可能导致早发常染色体隐性肌营养不良,尤其是2C型(LGMD2C)的四肢带肌营养不良。[RefSeq,2008年10月提供]
Related ID:
NCBI:6445
ENSEMBL:ENSG00000102683
HGNC:10809
UNIPROT:Q13326
OMIM:608896
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6445
5
8
164655 bp
32.38
450
3
4
8
SGCG Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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