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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
UGP2 - UDP-glucose Pyrophosphorylase 2
Alias:
UDPG
UGP1
DEE83
UDPGP
UGPP1
UGPP2
EIEE83
SVUGP2
UDPGP2
pHC379
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的酶是哺乳动物碳水化合物相互转换中的重要中间物质。它将葡萄糖部分从葡萄糖-1-磷酸转移到MgUTP,并形成UDP-葡萄糖和MgPPi。在肝脏和肌肉组织中,UDP-葡萄糖是糖原的直接前体;在泌乳的乳腺中,它被转化为UDP-半乳糖,然后转化为乳糖。真核酶与原核酶没有显著的序列相似性。已发现这个基因有两个编码不同异构体的转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7360
ENSEMBL:ENSG00000169764
HGNC:12527
UNIPROT:Q16851
OMIM:191760
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7360
9
10
50592 bp
56.94
19
1
4
15
UGP2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Interactions
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Type
Name
MGI
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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