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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
ATP2B4 - ATPase Plasma Membrane Ca2+ Transporting 4
Alias:
MXRA1
PMCA4
ATP2B2
PMCA4b
PMCA4x
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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在反应周期中形成天冬氨酸磷酸盐中间体的P型初级离子转运ATP酶家族。这些酶从真核细胞中去除二价钙离子,并在细胞内钙稳态中发挥关键作用。哺乳动物血浆膜钙ATP酶同源物由至少四个单独的基因编码,这些酶的多样性进一步通过转录本的替代剪接增加。不同同源物和剪接变体的表达在发育、组织和细胞类型特异性地调节,这表明这些泵在特定细胞和组织的生理需求上具有功能性适应性。这个基因编码血浆膜钙ATP酶同源物4。已识别出编码不同同源物的可变剪接转录本。[由RefSeq提供,2008年7月]
Related ID:
NCBI:493
ENSEMBL:ENSG00000058668
HGNC:817
UNIPROT:P23634
OMIM:108732
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
493
4
21
117250 bp
137.92
129
--
6
18
ATP2B4 Genetics information (+)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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