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中文人类
PRPS1 - Phosphoribosyl Pyrophosphate Synthetase 1
Alias:
ARTS
DFN2
PRSI
CMTX5
DFNX1
PRS-I
PPRibP
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这个基因编码一种酶，催化核糖5-磷酸的磷酸核糖基化，生成5-磷酸核糖-1-焦磷酸，这对于嘌呤代谢和核苷酸生物合成是必要的。这个基因的缺陷是导致磷酸核糖焦磷酸合成酶活性过强、Charcot-Marie-Tooth病X连锁隐性类型5和Arts综合征的原因。已经在这个基因中发现两个编码不同异型的转录变异体。[RefSeq提供，2011年2月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PRPS1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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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
