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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
TJP3 - Tight Junction Protein 3
Alias:
ZO3
ZO-3
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是膜关联鸟苷酸激酶样(MAGUK)蛋白质家族的成员,其特征是成员具有多个PDZ结构域,一个单一的SH3结构域,和一个单一的鸟苷酸激酶样(GUK)结构域。此外,闭塞带蛋白亚家族的成员具有一个酸性结构域,一个富含精氨酸的基本区域,和一个富含脯氨酸的区域。这个基因编码的蛋白质在细胞骨架和紧密连接之间的连接中发挥作用,并在有丝分裂期间将细胞周期蛋白D1隔离在紧密连接处。可变剪接产生多种转录变异体,编码不同的异构体。这个基因在染色体1上有一个部分假基因。[由RefSeq,2012年5月提供]
Related ID:
NCBI:27134
ENSEMBL:ENSG00000105289
HGNC:11829
UNIPROT:O95049
OMIM:612689
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27134
3
21
42430 bp
101.40
7
--
4
17
TJP3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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