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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
OXCT2 - 3-oxoacid CoA-transferase 2
Alias:
SCOTT
FKSG25
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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催化 Succinate 上的 CoA 集团转移到 Acetoacetate 上,是酮体分解的重要酶。编码的蛋白质定位在线粒体中。这个基因没有内含子,这个基因的假基因位于染色体 1 的其他地方。[由 RefSeq 提供,2016 年 8 月]
Related ID:
NCBI:64064
ENSEMBL:ENSG00000198754
HGNC:18606
UNIPROT:Q9BYC2
OMIM:610289
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
64064
1
1
1826 bp
56.14
19
--
2
3
OXCT2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Status
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Link
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References Literature
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