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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
AGXT2 - Alanine--glyoxylate Aminotransferase 2
Alias:
AGT2
BAIBA
DAIBAT
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种III类依赖于磷酸吡哆醛的线粒体氨基酸转移酶。它催化乙醛酸转化为甘氨酸,使用L-丙氨酸作为氨基酸供体。它是甲基精氨酸的重要调节剂,并涉及肾脏血压的控制。这个基因的多态性影响甲基精氨酸和β-氨基异丁酸代谢,并与颈动脉动脉粥样硬化有关。可变剪接导致多个转录变异体。[RefSeq,2015年4月提供]
Related ID:
NCBI:64902
ENSEMBL:ENSG00000113492
HGNC:14412
UNIPROT:Q9BYV1
OMIM:612471
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
64902
6
14
49848 bp
57.16
36
1
5
8
AGXT2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
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No data available
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CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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