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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
Fxyd2 - FXYD domain-containing ion transport regulator 2
Alias:
Atp1g1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
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这个基因编码一个小型膜蛋白家族的成员,该家族共享一个35个氨基酸的特征序列结构域,从序列PFXYD开始,包含7个不变和6个高度保守的氨基酸。批准的人类基因命名法将该家族命名为包含离子转运调节器的FXYD结构域。小鼠FXYD5被称为RIC(与离子通道相关)。FXYD2,也称为Na,K-ATPase的γ亚基,调节该酶的性质。FXYD1(磷脂酰肌醇蛋白),FXYD2(γ),FXYD3(MAT-8),FXYD4(CHIF)和FXYD5(RIC)已在实验表达系统中显示能诱导通道活性。已经为两个家族成员(FXYD1和FXYD2)建立了跨膜拓扑结构,N端位于细胞外,C端位于膜的胞质侧。这个基因编码的III型整合膜蛋白是存在于质膜上的Na,K-ATPase的γ亚基。尽管Na,K-ATPase不依赖于γ亚基发挥作用,但认为γ亚基通过诱导离子通道活性来调节酶的活性。已经描述了这个基因的多个转录变异体,它们在特定组织和发育阶段表达,并在N端编码不同的蛋白质。[RefSeq,2009年9月提供]
Related ID:
NCBI:11936
ENSEMBL:ENSMUSG00000059412
UNIPROT:Q04646
Basic Information
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11936
3
6
10570 bp
7.52
4
12
Fxyd2 Genetics information (+)
GRCm39
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* This data comes from NCBI.
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