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中文人类
HPRT1 - Hypoxanthine Phosphoribosyltransferase 1
Alias:
HPRT
HGPRT
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这个基因编码的蛋白质是一种转移酶，它通过从5-磷酸核糖基-1-焦磷酸转移5-磷酸核糖基，催化次黄嘌呤转化为肌苷一磷酸和鸟苷转化为鸟苷一磷酸。这个酶在通过嘌呤救救途径生成嘌呤核苷酸中扮演重要角色。这个基因的突变导致Lesch-Nyhan综合症或痛风。[RefSeq,2009年6月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HPRT1 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
