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中文人类
COQ2 - Coenzyme Q2, Polyprenyltransferase
Alias:
MSA1
CL640
COQ10D1
PHB:PPT
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这个基因编码一种酶，该酶在CoQ（泛醌）生物合成的最后阶段发挥作用，CoQ是线粒体呼吸链中的氧化还原载体，也是脂溶性抗氧化剂。这种酶是辅酶Q10途径的一部分，催化对羟基苯甲酸盐与全反式聚戊二烯基团的前黎基化。这个基因的突变导致辅酶Q10缺乏，一种线粒体脑肌病，以及COQ2肾病，一种以肾脏主要受累为特征的遗传性线粒体疾病。[由RefSeq，2009年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COQ2 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
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Year
IF
