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中文人类
PNPT1 - Polyribonucleotide Nucleotidyltransferase 1
Alias:
OLD35
SCA25
DFNB70
PNPASE
old-35
COXPD13
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这个基因编码的蛋白质属于进化保守的多核苷酸磷酸化酶家族，该家族包含参与RNA加工和降解的磷酸依赖性3'-至5'外切核糖核酸酶。这种酶主要定位在线粒体膜间隙，并涉及RNA向线粒体的导入。这个基因的突变与组合氧化磷酸化缺陷-13和常染色体隐性非综合征性耳聋-70有关。相关的假基因位于染色体3和7上。[由RefSeq提供，2012年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PNPT1 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
