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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
KEAP1 - Kelch Like ECH Associated Protein 1
Alias:
INrf2
KLHL19
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有KELCH-1样结构域和BTB/POZ结构域的蛋白质。Kelch样ECH关联蛋白1以氧化还原敏感的方式与NF-E2相关因子2相互作用,并在细胞质中蛋白质的解离之后,将NF-E2相关因子2运输到细胞核中。这种相互作用导致γ-谷氨酰半胱氨酸合成酶的催化亚基的表达。已发现这个基因的两个可变剪接转录变异体,它们编码相同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9817
ENSEMBL:ENSG00000079999
HGNC:23177
UNIPROT:Q14145
OMIM:606016
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9817
2
6
17232 bp
69.67
32
1
15
36
KEAP1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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