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中文人类
PCYT1A - Phosphate Cytidylyltransferase 1A, Choline
Alias:
CT
CTA
CCTA
CTPCT
PCYT1
SMDCRD
CCTalpha
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这个基因属于核苷酸转移酶家族，参与磷脂酰胆碱生物合成的调节。这个基因的突变与脊柱骨密度异常和圆锥形视神经萎缩有关。已经发现了这个基因的可变剪接转录变异体。[RefSeq,2015年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PCYT1A 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
