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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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GFPT1 - Glutamine--fructose-6-phosphate Transaminase 1
Alias:
GFA
GFAT
GFPT
MSLG
CMS12
GFAT1
CMSTA1
GFAT 1
GFAT1m
GFPT1L
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码第一个和速率限制的酶,该酶是hexosamine途径的关键酶,并控制葡萄糖进入hexosamine途径的流量。这个基因的产品催化葡萄糖胺6-磷酸的形成。[由RefSeq,2008年9月提供]
Related ID:
NCBI:2673
ENSEMBL:ENSG00000198380
HGNC:4241
UNIPROT:Q06210
OMIM:138292
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2673
4
20
67448 bp
78.81
503
4
5
19
GFPT1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
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
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
Mechanism
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Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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