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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
Cldn19 - claudin 19
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个claudin家族的成员。Claudins是整合膜蛋白,是紧密连接链的组成部分。紧密连接链作为物理屏障,防止溶质和水自由通过上皮或内皮细胞片之间的胞间空间。它们在维持细胞极性和信号传导方面也起着关键作用。在鼠中对该基因的siRNA敲除导致FHHNC(家族性低镁血症、高钙尿症和肾结石)症状,表现为镁和钙的慢性肾丢失,以及肾盐处理缺陷。这个基因编码的蛋白质与另一个家族成员Claudin 16相互作用,这种相互作用对于它们组装成紧密连接以及肾镁的重吸收是必需的。这个蛋白质是周围有髓神经雪旺细胞的紧密连接的成分,基因缺陷影响周围有髓纤维的神经传导。已经发现这个基因的不同剪接转录变异体,编码不同的异构体。[RefSeq,2010年8月提供]
Related ID:
NCBI:242653
ENSEMBL:ENSMUSG00000066058
UNIPROT:Q9ET38
Basic Information
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Transcripts
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Length
MW (kDa)
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242653
2
5
6998 bp
23.34
5
10
Cldn19 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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