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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
KCNJ1 - Potassium Inwardly Rectifying Channel Subfamily J Member 1
Alias:
ROMK
ROMK1
KIR1.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
钾通道存在于大多数哺乳动物细胞中,参与广泛的生理反应。这个基因编码的蛋白质是一个整合膜蛋白和内向整流型钾通道。它由内部ATP激活,并在钾平衡中起重要作用。编码的蛋白质有更大的倾向允许钾进入细胞而非从细胞中流出。这个基因的突变与产前巴特综合征有关,其特征是盐消耗、低钾性碱中毒、高钙尿症和低血压。已经发现这个基因有不同的转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3758
ENSEMBL:ENSG00000151704
HGNC:6255
UNIPROT:P48048
OMIM:600359
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3758
5
3
29277 bp
44.80
162
2
9
13
KCNJ1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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Status
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Link
No data available
References Literature
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No Data Found!
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