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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
CPT1B - Carnitine Palmitoyltransferase 1B
Alias:
CPTI
CPT1M
MCPT1
CPT1-M
CPTI-M
M-CPT1
MCCPT1
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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是肌肉线粒体中长链脂肪酸β氧化途径的速率控制酶,负责长链脂肪酸酰CoA从细胞质到线粒体的净运输。已发现这个基因有多个编码不同异型的转录变异体,并且跨读转录从上游位点表达,包括这个基因的外显子。[RefSeq,2009年6月提供]
Related ID:
NCBI:1375
ENSEMBL:ENSG00000205560
HGNC:2329
UNIPROT:Q92523
OMIM:601987
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1375
6
20
9752 bp
87.80
54
--
4
11
CPT1B 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)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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