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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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人类
AGXT - Alanine--glyoxylate Aminotransferase
Alias:
AGT
PH1
SPT
AGT1
SPAT
TLH6
AGXT1
Ser-PyrAT
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因只在肝脏中表达,其编码的蛋白质主要定位在过氧化物酶体中,参与甘油酸盐解毒。这个基因的突变,其中一些改变亚细胞定位,与I型原发性高草酸盐尿症有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:189
ENSEMBL:ENSG00000172482
HGNC:341
UNIPROT:P21549
OMIM:604285
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
189
1
11
11677 bp
43.01
718
2
5
34
AGXT 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
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Interactions
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Acting
Regulation
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Reference
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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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