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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
GSR - Glutathione-disulfide Reductase
Alias:
GR
GSRD
HEL-75
HEL-S-122m
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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I类吡啶核苷酸二硫化物氧化还原酶家族的成员。这种酶是一种同源二聚黄酮蛋白。它是细胞抗氧化防御的中枢酶,将氧化型谷胱甘肽二硫化物(GSSG)还原为硫氢基形式GSH,GSH是细胞内重要的抗氧化剂。这个基因的罕见突变导致遗传性谷胱甘肽还原酶缺乏。已经发现了多种可变剪接转录变异体,编码不同的异构体。[RefSeq,2010年8月提供]
Related ID:
NCBI:2936
ENSEMBL:ENSG00000104687
HGNC:4623
UNIPROT:P00390
OMIM:138300
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2936
6
13
49781 bp
56.26
125
1
3
18
GSR 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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