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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
CLDN9 - Claudin 9
Alias:
DFNB116
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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板之间的胞间空间。它们还在维持细胞极性和信号传导中起到关键作用。这种蛋白质是丙型肝炎病毒的一种进入共因子。小鼠研究表明,该基因对于听觉器官中感觉细胞的保存是必需的,基因缺陷与耳聋有关。[RefSeq,2010年6月提供]
Related ID:
NCBI:9080
ENSEMBL:ENSG00000213937
HGNC:2051
UNIPROT:O95484
OMIM:615799
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9080
1
1
1583 bp
22.85
28
1
4
4
CLDN9 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Score
Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
Organ
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Interactions
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Related Mouse Models
Type
Name
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Mutations
No data available
Related Drugs
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CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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