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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
PEMT - Phosphatidylethanolamine N-methyltransferase
Alias:
PLMT
PNMT
PEAMT
PEMPT
PEMT2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
磷脂酰胆碱(PC)是哺乳动物中最丰富的磷脂。这个基因编码一种在肝脏中通过连续甲基化将磷脂酰乙醇胺转化为磷脂酰胆碱的酶。有核细胞中另一种独特的合成途径通过三个步骤将细胞内胆碱转化为磷脂酰胆碱。这个基因编码的蛋白质异型体定位内质网和线粒体相关膜。这个基因的可变剪接导致多个转录变异体,它们编码不同的异型体。[RefSeq,2012年5月提供]
Related ID:
NCBI:10400
ENSEMBL:ENSG00000133027
HGNC:8830
UNIPROT:Q9UBM1
OMIM:602391
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10400
8
7
86580 bp
22.13
6
--
6
11
PEMT 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
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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