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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
TJAP1 - Tight Junction Associated Protein 1
Alias:
PILT
TJP4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个紧密连接相关蛋白。编码的蛋白在紧密连接形成的晚期融入紧密连接。该蛋白定位在高尔基体,可能参与囊泡运输。可变剪接的转录变异体已经描述。X染色体上存在一个相关的假基因。[RefSeq,2009年3月提供]
Related ID:
NCBI:93643
ENSEMBL:ENSG00000137221
HGNC:17949
UNIPROT:Q5JTD0
OMIM:612658
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
93643
60
11
28985 bp
61.82
22
--
4
15
TJAP1 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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References Literature
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