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中文人类
APEX1 - Apurinic/apyrimidinic Endodeoxyribonuclease 1
Alias:
APE
APX
APE1
APEN
APEX
HAP1
REF1
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APEX基因编码人体细胞中的主要AP内切核酸酶。它编码APEX内切酶，一种具有脱氧核糖酸酶(AP)活性的DNA修复酶。在DNA分子中，AP活性位点通常通过自发水解、DNA损害剂或去除特定异常碱基的DNA糖基化而产生。AP位点是防止正常DNA复制的最常见预突变损伤。已发现此基因的剪接变异体；它们都编码相同的蛋白质。与APEX相关的生物功能破坏与许多不同类型的恶性肿瘤和神经退行性疾病有关。[RefSeq，2019年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
APEX1 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
