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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
POLGARF - POLG Alternative Reading Frame
Alias:
POLG
ORF-Y
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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References Literature
这个基因与POLG基因使用相同的转录本,但具有CUG起始密码子和一个替代的阅读框架,产生一个260个氨基酸的蛋白质。这个蛋白质与POLG的异构体不同,可能与其他蛋白质相互作用,如P32(也称为C1QBP),这是一种线粒体基质蛋白,被认为与线粒体基因组编码的蛋白质的表达有关。POLGARF蛋白可能结合P32并将其包裹在核仁中。有趣的是,一些被认为位于POLG中的致病突变可能与POLGARF有关。[由RefSeq提供,2022年5月]
Related ID:
NCBI:125316803
UNIPROT:A0A3B3IS91
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
125316803
1
23
18505 bp
Unknown
2299
20
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POLGARF Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Status
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References Literature
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No Data Found!
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