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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
小鼠
Atp6v1a - ATPase, H+ transporting, lysosomal V1 subunit A
Alias:
VA68
VPP2
Atp6a1
Atp6a2
Atp6v1a1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有质子转运ATP酶活性,旋转机制。预测参与细胞内铁离子平衡;细胞对增加氧气的反应;以及质子跨膜转运。预测在离子转运的上游或内部发挥作用。位于顶浆膜;胞质溶胶;和微绒毛。在几个结构中表达,包括消化系统;中枢神经系统;生殖泌尿系统;心脏;和感觉器官。这个基因的人类同源物与常染色体隐性皮肤松弛症IID和发育性和癫痫性脑病93有关。与人类ATP6V1A(ATP酶H+转运V1亚单位A)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:11964
ENSEMBL:ENSMUSG00000052459
UNIPROT:P50516
Basic Information
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MW (kDa)
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11964
6
15
54291 bp
68.33
4
9
Atp6v1a Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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