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中文人类
OAT - Ornithine Aminotransferase
Alias:
OKT
GACR
HOGA
OATASE
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该基因编码线粒体酶鸟氨酸氨基转移酶，这是将精氨酸和鸟氨酸转化为主要兴奋和抑制性神经递质谷氨酸和GABA途径中的关键酶。导致该酶缺乏的突变引起常染色体隐性眼疾螺旋萎缩。已经描述了编码不同异构体的可变剪接转录变异体。在X染色体上定义了相关的假基因[由RefSeq，2010年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
OAT Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
