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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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人类
ATP1A2 - ATPase Na+/K+ Transporting Subunit Alpha 2
Alias:
FHM2
MHP2
DEE98
FARIMPD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于P型阳离子转运ATP酶家族,以及Na+/K+-ATP酶亚家族。Na+/K+-ATP酶是一种整合膜蛋白,负责建立和维护质膜上Na和K离子的电化学梯度。这些梯度对于调节渗透压、钠离子耦合的各种有机和无机分子的运输以及神经和肌肉的电兴奋性是必不可少的。这种酶由两个亚基组成,一个大型催化亚基(α)和一个较小的糖蛋白亚基(β)。Na+/K+-ATP酶的催化亚基由多个基因编码。这个基因编码一个α2亚基。这个基因的突变导致家族性基底或偏瘫性偏头痛,以及一种罕见的称为儿童交替偏瘫综合征的症状。[RefSeq,2008年10月提供]
Related ID:
NCBI:477
ENSEMBL:ENSG00000018625
HGNC:800
UNIPROT:P50993
OMIM:182340
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
477
2
23
27833 bp
112.27
1096
10
8
20
ATP1A2 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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