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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
P2RX6 - Purinergic Receptor P2X 6
Alias:
P2X6
P2XM
P2RXL1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于P2X受体家族,它们是ATP门控离子通道,并调节阳离子的快速选择性通透性。这个基因主要在骨骼肌中表达,并受p53调控。编码的蛋白质与VE-钙粘蛋白在人脐带内皮细胞的紧密连接处相关联。可变剪接产生多个转录变异体。已经发现了一个相关的假基因,也位于染色体22上。[RefSeq,2009年4月提供]
Related ID:
NCBI:9127
ENSEMBL:ENSG00000099957
HGNC:8538
UNIPROT:O15547
OMIM:608077
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9127
25
12
18210 bp
48.83
21
--
5
6
P2RX6 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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