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中文人类
UMPS - Uridine Monophosphate Synthetase
Alias:
OPRT
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这个基因编码尿苷-5'-一磷酸合酶。编码的蛋白质是一种双功能酶，催化新生嘧啶生物合成途径的最后两个步骤。第一个反应由N端酶乳清酸磷酸核糖基转移酶完成，将乳清酸转化为乳清酸-5'-一磷酸。最后一个反应由C端酶OMP脱羧酶完成，将乳清酸-5'-一磷酸转化为尿苷酸。这个基因的缺陷是导致遗传性乳清酸尿症的原因。交替剪接导致多个转录变异体。[RefSeq，2010年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
UMPS 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
