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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
CLDN16 - Claudin 16
Alias:
HOMG3
PCLN1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
紧密连接是上皮或内皮细胞膜的一种细胞间粘附方式,在细胞周围形成连续的封口,作为物理屏障防止溶质和水自由通过胞间间隙。这些连接由面向胞外的细胞质叶中连续网络状分子组成,而面向胞内的细胞外叶中有互补的沟槽。这个基因编码的蛋白质是紧密连接链的一部分,是一个整合膜蛋白。它主要存在于肾脏中,特别是在Henle升支的厚部,在那里作为细胞间孔或离子浓度传感器来调节镁离子的胞间重吸收。这个基因的缺陷是导致原发性低镁血症的原因,其特点是大量肾脏镁丢失、低镁血症和高钙尿症,导致肾钙化症和肾衰竭。这个基因和CLDN1基因在染色体3q28上聚集。[RefSeq,2010年6月提供]
Related ID:
NCBI:10686
ENSEMBL:ENSG00000113946
HGNC:2037
UNIPROT:Q9Y5I7
OMIM:603959
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10686
4
5
121778 bp
26.08
253
3
4
4
CLDN16 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
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References Literature
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