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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
SOD3 - Superoxide Dismutase 3
Alias:
EC-SOD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码超氧化物歧化酶(SOD)蛋白家族的成员。SODs是抗氧化酶,催化超氧阴离子自由基转化为过氧化氢和氧气,这可能保护大脑、肺和其他组织免受氧化应激。编码蛋白的蛋白水解加工导致形成两个不同的同四聚体,它们与细胞外基质(ECM)相互作用的能力不同。由完整蛋白质或C型亚单位组成的同四聚体与肝素具有高亲和力,并锚定在ECM上。由蛋白水解切割形式的蛋白质或A型亚单位组成的同四聚体与肝素的亲和力低,不与ECM相互作用。这个基因的突变可能与心脏病风险增加有关。[RefSeq,2015年10月提供]
Related ID:
NCBI:6649
ENSEMBL:ENSG00000109610
HGNC:11181
UNIPROT:P08294
OMIM:185490
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6649
1
2
5270 bp
25.85
25
--
6
13
SOD3 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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