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中文人类
POLG - DNA Polymerase Gamma, Catalytic Subunit
Alias:
PEO
MDP1
SCAE
MIRAS
POLG1
POLGA
SANDO
MTDPS4A
MTDPS4B
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线粒体DNA聚合酶是异源三聚体，由辅助亚基的同二聚体加上一个催化亚基组成。这个基因编码的蛋白质是线粒体DNA聚合酶的催化亚基。编码的蛋白质在其N端附近含有可能多态性的多聚谷氨酰胺区。这个基因的缺陷是导致进行性外眼肌麻痹伴线粒体DNA缺失1（PEOA1）、感觉性共济失调性神经病、肌营养不良和眼肌麻痹（SANDO）、Alpers-Huttenlocher综合征（AHS）和线粒体神经胃肠脑病综合征（MNGIE）的原因。这个基因的两个转录变异体已经发现，它们编码相同的蛋白质。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
POLG Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
