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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
CRAT - Carnitine O-acetyltransferase
Alias:
CAT
CAT1
NBIA8
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肉碱O-乙酰转移酶,肉碱酰基转移酶家族的一员,是能量稳态和脂肪代谢的关键代谢途径酶。这个酶催化酰基从酰基-CoA硫酯可逆地转移到肉碱,并调节酰基-CoA/CoA的比例。它在线粒体和过氧化物体中都有发现。选择性剪接导致编码不同亚型的转录变异体,可能定位到不同的亚细胞区室。[RefSeq,2016年10月提供]
Related ID:
NCBI:1384
ENSEMBL:ENSG00000095321
HGNC:2342
UNIPROT:P43155
OMIM:600184
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1384
12
14
16000 bp
70.86
188
2
5
11
CRAT Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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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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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Year
IF
No Data Found!
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