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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
AADAT - Aminoadipate Aminotransferase
Alias:
KAT2
KATII
KYAT2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与鼠和大鼠的犬脲氨酸氨基转移酶II高度相似的蛋白质。大鼠蛋白质是一个具有两个转氨活性的同源二聚体。一个活性是α-氨基己二酸转氨,这是糖醛酸途径中的最后一个步骤,糖醛酸途径是L-赖氨酸分解的主要途径。另一个活性涉及犬脲氨酸转氨,产生犬脲氨酸酸,这是具有神经保护作用的前体物质。已经发现这个基因的几个转录变异体,编码两种不同的异构体。[RefSeq, Nov 2013提供]
Related ID:
NCBI:51166
ENSEMBL:ENSG00000109576
HGNC:17929
UNIPROT:Q8N5Z0
OMIM:611754
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51166
8
13
34071 bp
47.35
4
--
4
8
AADAT Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Status
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References Literature
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IF
No Data Found!
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