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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
ATP6V1C2 - ATPase H+ Transporting V1 Subunit C2
Alias:
VMA5
ATP6C2
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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器官酸化的多亚基酶。V-ATPase依赖的器官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、三个B和两个G亚基以及一个C、D、E、F和H亚基组成。V1结构含有ATP催化位点。这个基因编码不同的转录剪接变异体,编码不同的V1结构C亚基异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:245973
ENSEMBL:ENSG00000143882
HGNC:18264
UNIPROT:Q8NEY4
OMIM:618070
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
245973
14
14
64168 bp
48.76
25
--
2
3
ATP6V1C2 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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