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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
SGCZ - Sarcoglycan Zeta
Alias:
ZSG1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
泽-肌纤维蛋白基因长度超过465kb,定位在8p22上。这个蛋白质是肌纤维蛋白复合物的一部分,这是一个由6个蛋白质组成的群体。肌纤维糖精都是N-糖基化的跨膜蛋白质,具有短的细胞内结构域,单个跨膜区域和含有羧基端簇的大细胞外结构域,该簇具有几个保守的半胱氨酸残基。肌纤维糖精复合物是肌营养不良蛋白相关糖蛋白复合物(DGC)的一部分,该复合物连接细胞内骨架和细胞外基质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:137868
ENSEMBL:ENSG00000185053
HGNC:14075
UNIPROT:Q96LD1
OMIM:608113
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
137868
4
8
1153587 bp
32.95
19
--
3
2
SGCZ Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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