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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
CLDN18 - Claudin 18
Alias:
SFTA5
SFTPJ
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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claudin家族的一员。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,防止溶质和水分自由通过上皮或内皮细胞片之间的胞间间隙,同时也在维持细胞极性和信号传导中起到关键作用。这个基因在溃疡性结肠炎患者中上调,并在浸润性导管腺癌中高度过表达。PKC/MAPK/AP-1(蛋白激酶C/有丝分裂原激活蛋白激酶/激活蛋白-1)依赖的途径在胃细胞中调节这个基因的表达。已经发现了编码不同异构体的可变剪接转录本。[由RefSeq,2010年6月提供]
Related ID:
NCBI:51208
ENSEMBL:ENSG00000066405
HGNC:2039
UNIPROT:P56856
OMIM:609210
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51208
2
5
34834 bp
27.86
11
--
11
5
CLDN18 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
Tissue-specific RNA expression
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References Literature
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