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中文人类
PNKP - Polynucleotide Kinase 3'-phosphatase
Alias:
PNK
AOA4
MCSZ
CMT2B2
EIEE10
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这个基因位点代表一个参与DNA修复的基因。在回应电离辐射或氧化损伤时，这个基因位点编码的蛋白质催化核酸的5'磷酸化和3'脱磷酸化。这个基因位点的突变与小头畸形、癫痫和发育迟滞有关。[由RefSeq，2010年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PNKP 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
