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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
ATP6V1G3 - ATPase H+ Transporting V1 Subunit G3
Alias:
Vma10
ATP6G3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了质子泵(V-ATPase)的一个组成部分,质子泵是一种多亚基酶,介导真核细胞内器官的酸化。依赖质子泵的器官酸化对于诸如蛋白质分类、酶原激活、受体介导的内吞和突触囊泡质子梯度生成等细胞内过程是必要的。质子泵由胞质V1域和跨膜V0域组成。V1域由三个A亚基和三个B亚基、两个G亚基以及C、D、E、F和H亚基组成。V1域包含ATP催化位点。V0域由五个不同的亚基组成:a、c、c'、c''和d。许多V1和V0亚基蛋白的额外同源物由多个基因或可变剪接转录变体编码。这个基因编码了三个G亚基蛋白中的一个。已经发现了这个基因编码不同异构体的转录变体。[由RefSeq提供,2008年7月]
Related ID:
NCBI:127124
ENSEMBL:ENSG00000151418
HGNC:18265
UNIPROT:Q96LB4
OMIM:618071
Basic Information
NCBI
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Exons
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Reference
127124
6
3
17724 bp
13.92
6
--
2
3
ATP6V1G3 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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