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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
POLG2 - DNA Polymerase Gamma 2, Accessory Subunit
Alias:
HP55
POLB
PEOA4
POLGB
MTPOLB
MTDPS16
MTDPS16A
MTDPS16B
POLG-BETA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码线粒体DNA聚合酶γ的进程性亚基。编码的蛋白质形成一个异源三聚体,包含一个催化亚基和两个进程性亚基。这个蛋白质增强DNA结合并促进连续的DNA合成。这个基因的突变导致常染色体显性进行性外眼肌麻痹,伴有线粒体DNA缺失。[由RefSeq,2009年9月提供]
Related ID:
NCBI:11232
ENSEMBL:ENSG00000256525
HGNC:9180
UNIPROT:Q9UHN1
OMIM:604983
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11232
5
8
19270 bp
54.91
341
4
5
14
POLG2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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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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