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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
UNC119 - Unc-119 Lipid Binding Chaperone
Alias:
HRG4
POC7
IMD13
POC7A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因在视网膜的光感受器中特异性表达。编码的产物与线虫 unc119 蛋白具有高度的同源性,并且可以功能性地弥补线虫 unc119 突变的缺失。该基因已经定位在视网膜外丛状层的光感受器突触中,被认为在光感受器神经递质释放的机制中起着作用,这涉及到突触囊泡的循环。这个基因有两个转录变异体,编码不同的异构体。[由 RefSeq,2008 年 7 月提供]
Related ID:
NCBI:9094
ENSEMBL:ENSG00000109103
HGNC:12565
UNIPROT:Q13432
OMIM:604011
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9094
4
5
5922 bp
26.96
186
4
5
22
UNC119 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Type
Name
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Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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