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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
AQP7 - Aquaporin 7
Alias:
AQP7L
AQPap
GLYCQTL
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个水选择性膜通道的aqp家族成员。编码的蛋白定位到质膜上,并允许水、甘油和尿素穿过细胞膜。这个基因在脂肪组织中高度表达,编码的蛋白促进甘油的流出。在肾脏的近端直小管中,编码的蛋白定位到顶膜上,防止甘油排泄到尿液中。这个蛋白存在于精母细胞中,以及在睾丸和附睾的精子中,提示在晚期精子发生中具有重要作用。这个基因的可变剪接导致多个转录变异体,编码不同的异构体。这个基因位于染色体9上一个相关的水通道基因附近。已经发现了这个基因的多个假基因。[由RefSeq提供,2015年12月]
Related ID:
NCBI:364
ENSEMBL:ENSG00000165269
HGNC:640
UNIPROT:O14520
OMIM:602974
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
364
7
8
19378 bp
37.23
8
1
10
11
AQP7 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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CAS Number
Status
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Link
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References Literature
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