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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
GPT2 - Glutamic--pyruvic Transaminase 2
Alias:
ALT2
GPT 2
MRT49
NEDSPM
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码线粒体的丙氨酸转氨酶,这是一种吡哆醇酶,可以催化丙氨酸和2-氧代谷氨酸之间的可逆转氨作用,生成丙酮酸和谷氨酸。丙氨酸转氨酶在许多组织中,包括骨骼肌、肾脏和肝脏,在糖异生作用和氨基酸代谢中发挥作用。在肝细胞系中,激活转录因子4在代谢应激条件下上调这个基因的表达。这个基因的功能丧失突变与发育性脑病有关。可变剪接导致多个转录变异体。[由RefSeq,2015年4月提供]
Related ID:
NCBI:84706
ENSEMBL:ENSG00000166123
HGNC:18062
UNIPROT:Q8TD30
OMIM:138210
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84706
8
12
46928 bp
57.90
83
1
5
6
GPT2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Status
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Link
No data available
References Literature
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No Data Found!
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