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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
MUTYH - MutY DNA Glycosylase
Alias:
MYH
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种参与氧化性DNA损伤修复的DNA糖基酶。这种酶在腺嘌呤与鸟嘌呤、胞嘧啶或8-氧代-7,8-二氢鸟嘌呤不适当配对的DNA骨架位置上切除腺嘌呤碱基,后者是氧化性DNA损伤的主要病变。该蛋白质定位于细胞核和线粒体。这种基因产物被认为在氧化损伤后通过引入单链断裂在信号凋亡中发挥作用。这种基因的突变会导致遗传性结肠癌倾向,称为MUTYH相关多发性腺瘤(MAP)。已发现这种基因的多种转录变体编码不同的等位基因。[由RefSeq提供,2017年4月]
Related ID:
NCBI:4595
ENSEMBL:ENSG00000132781
HGNC:7527
UNIPROT:Q9UIF7
OMIM:604933
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4595
48
16
11199 bp
60.07
2478
7
5
23
MUTYH 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
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Interactions
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Acting
Regulation
Detail
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Residues
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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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