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中文人类
PTDSS1 - Phosphatidylserine Synthase 1
Alias:
LMHD
PSS1
PSSA
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这个基因编码的蛋白质可以在磷脂酰胆碱或磷脂酰乙醇胺中催化磷脂酰丝氨酸的形成。磷脂酰丝氨酸定位在内质网与线粒体相关的膜上，在那里它既起到结构作用，也起到信号传递作用。这个基因的缺陷是Lenz-Majewski骨肥厚性侏儒症的原因。已经发现这个基因有两个转录变异体，编码不同的异构体。[RefSeq，2014年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PTDSS1 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
