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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
ATP6V1G2 - ATPase H+ Transporting V1 Subunit G2
Alias:
NG38
ATP6G
VMA10
ATP6G2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个泡囊ATP酶(V-ATPase)的成分,这是一个调节真核细胞内胞器酸化的多亚基酶。V-ATP酶依赖的酸化对于诸如蛋白质分选、酶原激活、受体介导的内吞作用和突触囊泡质子梯度的生成等细胞内过程是必要的。V-ATPase由细胞质V1结构和跨膜V0结构组成。V1结构由三个A和三个B亚基,两个G亚基以及C、D、E、F和H亚基组成。V1结构包含ATP催化位点。V0结构由五个不同的亚基组成:a、c、c'、c''和d。许多V1和V0亚基蛋白的额外异构体由多个基因或可选的剪接转录变体编码。这个编码的蛋白质是三个V1结构G亚基蛋白质之一。这个基因以前的有丝分裂基因符号是ATP6G和ATP6G2。已经描述了编码不同异构体的可选剪接转录变体。还存在这个基因和下游的DEAD(Asp-Glu-Ala-Asp)盒多肽39B(DDX39B)基因之间的读穿转录。[RefSeq,2011年2月提供]
Related ID:
NCBI:534
ENSEMBL:ENSG00000213760
HGNC:862
UNIPROT:O95670
OMIM:606853
Basic Information
NCBI
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MW (kDa)
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534
3
3
2299 bp
13.60
4
--
5
6
ATP6V1G2 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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