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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
HVCN1 - Hydrogen Voltage Gated Channel 1
Alias:
HV1
VSOP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种在免疫系统某些细胞中表达较高的电压门控蛋白通道蛋白。吞噬细胞产生需要这个通道蛋白的超氧化物阴离子,而在B细胞中,这个过程有助于抗体的产生。然而,这个相同的通道蛋白还可以调节其他细胞的功能,包括精子的功能。已经发现这个基因有多个编码不同异型的转录变异体。[RefSeq,2012年1月提供]
Related ID:
NCBI:84329
ENSEMBL:ENSG00000122986
HGNC:28240
UNIPROT:Q96D96
OMIM:611227
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84329
18
8
56267 bp
31.68
4
--
8
8
HVCN1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Type
Name
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References Literature
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No Data Found!
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