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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
PATJ - PATJ Crumbs Cell Polarity Complex Component
Alias:
Cipp
INADL
hINADL
InaD-like
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有多个PDZ结构域的蛋白质。PDZ结构域介导蛋白质之间的相互作用,具有多个PDZ结构域的蛋白质通常会在质膜上组织多聚复合物。这个蛋白质定位在紧密连接处和上皮细胞的顶膜上。果蝇中一个类似的蛋白质是一个支架蛋白,它在光感受器中系住几个多聚信号复合物的成员。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10207
ENSEMBL:ENSG00000132849
HGNC:28881
UNIPROT:Q8NI35
OMIM:603199
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10207
23
44
421436 bp
Unknown
32
--
3
--
PATJ Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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